"My child can't see"-workup and management of children with low vision: a joint workshop of the AAPOS Low Vision Rehabilitation and Genetic Eye Diseases Committees.

“My child can’t see”—workup and management of children with low vision: a joint workshop of the AAPOS Low Vision and Genetic Eye Diseases Committees - PMC Skip to main content An official website of the United States government Here's how you know Here's how you know Search Log in Primary site navigation Search Log in Search PMC Full-Text Archive Search in PMC Journal List User Guide As a library, NLM provides access to scientific literature. Inclusion in an NLM database does not imply endorsement of, or agreement with, the contents by NLM or the National Institutes of Health. Learn more: PMC Disclaimer | PMC Copyright Notice J AAPOS . Author manuscript; available in PMC: 2026 Jun 1. Published in final edited form as: J AAPOS. 2025 May 27;29(3):104229. doi: 10.1016/j.jaapos.2025.104229 “My child can’t see”—workup and management of children with low vision: a joint workshop of the AAPOS Low Vision and Genetic Eye Diseases Committees Lauren Ditta a, b, c , Virginia Miraldi Utz d , Arvind Chandna e, f , Arlene Drack g , Margaret Reynolds h , Matthew Weed i , Alina Dumitrescu g , Melinda Y Chang j, k Author information Article notes Copyright and License information a Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee; b LeBonheur Children’s Hospital Neuroscience Institute, Le Bonheur Children’s Hospital, Memphis, Tennessee; c Division of Ophthalmology, Department of Surgery, St. Jude Children’s Research Hospital, Memphis, Tennessee; d Abrahamson Pediatric Eye Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; e Smith-Kettlewell Eye Research Institute, San Francisco, California; f Alder Hey Children’s Hospital Liverpool, United Kingdom; g University of Iowa, Iowa City, Iowa; h Department of Ophthalmology, Washington University in St. Louis, St. Louis, Missouri; i Spokane Eye Clinic, Spokane, Washington; j Children’s Hospital Los Angeles, Division of Ophthalmology, Los Angeles, California; k Department of Ophthalmology, University of Southern California, Los Angeles, California ✉ Correspondence: Melinda Y. Chang, MD, 4650 Sunset Blvd., Mailstop #88, Los Angeles, CA 90027 ( Melinda.y.wu@gmail.com ). Issue date 2025 Jun. PMC Copyright notice PMCID: PMC12185237  NIHMSID: NIHMS2085264  PMID: 40441479 The publisher's version of this article is available at J AAPOS Summary Children with visual impairment present a unique challenge to pediatric ophthalmologists. Diagnostic workup may include tests that require specialized interpretation, such as genetic testing and neuropsychological assessments. The differential diagnosis includes rare conditions, such as certain inherited retinal disorders, as well as more common conditions, such as cerebral/cortical visual impairment. Management of children with visual impairment requires ophthalmologists to become familiar with visual prognosis associated with various conditions and supports available for children with low vision, which vary by age. Younger children benefit from early intervention services, which may include pre-braille skills and orientation and mobility training. Older children require counseling with regard to driving, independent skills, and transition to adult care. This workshop provides detailed discussion of differential diagnoses, diagnostic tests, and management strategies in infants and older children with visual impairment. We emphasize the importance of a multidisciplinary approach, since vision impacts development in multiple domains, and many children with visual impairments are multiply disabled. Diagnosis, workup, and management of children with low vision are challenging for pediatric ophthalmologists. The differential diagnosis varies by age and clinical presentation, and diagnostic testing is guided by suspected diagnosis, age, and development. Management considerations are also age dependent: infants and young children are preparing to enter school, while adolescents face new concerns related to driving and transition to adult care. This workshop provides a practical framework for approaching the child who presents with decreased vision, either in infancy or at an older age. For each age group, an illustrative case is presented, followed by a review of the age-specific differential diagnosis. This is followed by a discussion of tools and techniques used in the workup of vision loss, and finally, an age-stratified discussion of special considerations related to ongoing management. An Infant with Decreased Vision (Case 1) A 20-month-old girl presented with severe nyctalopia, intermittent nystagmus, and intermittent exotropia. The parents reported that she had difficulty seeing at distance and noticed she liked to gaze at lights. The child’s prenatal, birth, and developmental history were unremarkable. Her family history was significant for two elder brothers with cone-rod dystrophy, both diagnosed around 1 year of age. On initial examination, visual acuity was 20/270 (2.4 CPD @ 55 cm) and central-steady-maintained in each eye. Pupils were reactive without a relative afferent pupillary defect (RAPD) or paradoxical pupillary response. She had intermittent, horizontal, conjugate jerk nystagmus of moderate amplitude and low frequency and variable-angle exotropia. Anterior segment examination was unremarkable, and the posterior segment demonstrated normal optic nerves, a granular, blunted foveal reflex in both eyes, mildly attenuated vasculature, and granular pigmentation of the midperipheral retina. Cycloplegic refraction was −11.50 +1.00 ×110 in the right eye and −11.50 +1.25 ×070 in the left eye. The patient was placed in her glasses correction and referred for low vision services. A full-field electroretinogram (ERG) demonstrated extinguished scotopic and photopic responses. She was offered genetic counseling and testing, but the family deferred at that time. At 6 years of age, her best-corrected visual acuity was 20/70 in the right eye and 20/80 in the left eye. Color vision was impaired on Ishihara plates testing (2/17 in each eye). She demonstrated an intermittent jerk nystagmus. Alignment was orthophoric in her full refractive correction. Fundus examination was similar to the initial evaluation ( Figure 1A ), and cycloplegic refraction showed mild progression of high myopia and astigmatism. Fundus autofluorescence demonstrated macular hypoautofluorescence in both eyes ( Figure 1B ). Optical coherence tomography (OCT) of the retina demonstrated perifoveal outer retina disruption and loss of the ellipsoid band, but relative preservation of the outer retina within the fovea ( Figure 1C ). The patient underwent genetic testing after her brothers were found to have bi-allelic homozygous pathogenic variants in RPE65 (c.1102T>C, p. Tyr368 Cys), 1 – 3 with each parent carrying a single copy of the pathogenic variant. The patient had the same biallelic pathogenic variant (Prevention Genetics, Marshfield, WI) and was diagnosed with Leber congenital amaurosis (LCA). Therefore, she was a candidate for FDA-approved gene therapy with voretigene neparvovec. At age 9 years, she underwent 23-gauge pars plana vitrectomy, internal limiting membrane peel, and voretigene neparvovec subretinal injection with fluid air exchange in each eye, separated by 1 month and without complication. FIG 1. Open in a new tab Multimodal imaging of case 1 , a patient with Leber congenital amaurosis (LCA) associated with biallelic pathogenic variants in in RPE65 . A, Color photographic images of the retina, with myopic appearing fundus, mottled macular pigmentation, midperipheral and peripheral pigmentary changes, and vascular attenuation. B, The fundus autofluorescence demonstrates severely reduced autofluorescence, which is characteristic of recessive RPE65 -associated retinopathy. C, Spectral domain optical coherence tomography demonstrates retinal thinning, with loss of photoreceptor layers in the perifoveal region. The photoreceptor layer and ellipsoid band are relatively preserved in the fovea. At her 2-year postoperative visit, her best-corrected visual acuity was 20/40 −1 in each eye. Her multifocal ERG demonstrated relative stability compared with preoperative testing. Notably, she experienced significant improvement in detection of a low luminance stimulus by full-field stimulus threshold testing (FST) and reported significant and stable improvement of nyctalopia following surgery. Because only a small area of the retina was treated, peripheral retinal degeneration continued, with progressive constriction of the visual field ( Figure 2 ). FIG 2. Open in a new tab Full-field stimulus threshold testing (FST) and kinetic visual fields in case 1 , a patient who received voretigene neparvovec-rzyl subretinal injection in both eyes. A, Preoperative (age 9 years). B, Postoperative (age 11 years). FST demonstrates significantly improved detection of low luminance levels. This is consistent with patient’s report of marked improvement in nyctalopia following surgery. Visual field testing shows progressive visual field loss because only a small area of the retina is treated with subretinal injection. Images courtesy of Robert A. Sisk, MD. Differential Diagnosis for Infants with Poor Vision The differential diagnosis of infants and young children with poor vision or lack of expected visual behavior without obvious abnormalities on ophthalmologic examination (such as high refractive errors or anterior segment pathology) includes inherited retinal disorders (IRDs), including LCA, 4 cerebral/cortical visual impairment (CVI), 5 – 7 ocular motor apraxia, 8 delayed visual maturation (DVM), 9 , 10 and subtle congenital optic nerve anomalies (eg, optic nerve hypoplasia) 11 , 12 ( Table 1 ). Children with albinism and other pigmentation disorders 13 may present with nystagmus and decreased visual acuity for age. Table 1. Differential diagnosis in an infant who “cannot see” or demonstrates poor visual behaviors Inherited retinal disorders (IRDs) Cerebral/cortical visual impairment Congenital oculomotor apraxia Delayed visual maturation (DVM) ON hypoplasia Albinism/pigmentation disorders History Birth and development Developmental delay may occur if syndromic Prematurity a risk factor; developmental delay in up to 100% due to underlying neurologic condition 5 Developmental delay in 41% 8 Developmental delay primarily in type II DVM 9 Developmental delay in 71% 11 Normal Systemic medical conditions Hearing loss, renal disease, multisystemic involvement in associated syndromic and metabolic conditions (need to rule out) Cerebral palsy in about 50% 6 ; other medical conditions may be associated with prematurity and underlying neurologic or genetic disorders Other medical conditions may be associated with underlying neurologic or genetic disorders (eg, Gaucher syndrome) Other medical conditions may be associated with underlying neurologic disorders in type II DVM Endocrinopathy in 79% 11 Pale skin/hair; platelet dysfunction, pulmonary fibrosis (Hermansky-Pudlak syndrome); immunodeficiency (Chediak-Higashi syndrome) 13 Behavioral response to light Photophobia, light-gazing, and nyctalopia common May have light-gazing or photophobia 24 , 25 Normal Normal unless severe vision loss Normal unless severe vision loss Photophobia Examination Pupils May exhibit paradoxical pupillary response Normal, unless comorbid ON or retina disease Normal Normal RAPD if unilateral or asymmetric Normal Ocular motility Nystagmus usu present High rate of strabismus; nystagmus usu only present if comorbid ON or retina disease 5 Horizontal saccades absent but VOR intact; head thrusting present after about 6 mos of age Normal High rate of strabismus and nystagmus Nystagmus and strabismus common OKN response Usu present Present or absent, depending on degree of visual impairment “Locking up” on horizontal OKN testing. Normal vertical OKN response is present. Present or absent, depending on degree of visual impairment Present or absent, depending on degree of visual impairment Usu present Ocular exam Variable, normal to grossly abnormal macular and/or peripheral pigmentary changes 4 ; vascular attenuation common in IRDs with retinal degeneration Normal, unless comorbid ON or retina disease Normal Normal Double ring sign, vascular tortuosity or straightening 12 Transillumination defects, foveal hypoplasia Cycloplegic refraction High hyperopia and high myopia features of certain IRDs (eg, high hyperopia in Leber congenital amaurosis; high myopia in CSNB) 18 No characteristic RE; may have hypoaccommodation 7 No characteristic RE No characteristic RE No characteristic RE Ametropia common, high astigmatism Neuroimaging Brain MRI findings Normal unless the genetic cause is associated with a structural brain abnormality Usu abnormal Abnormal in 61% 8 Delayed myelination in some cases 10 Abnormal in 63% 11 ; most commonly absent septum pellucidum and/or agenesis or hypoplasia of corpus callosum Normal Open in a new tab CSNB , congenital stationary night blindness; MRI , magnetic resonance imaging; OKN , optokinetic nystagmus; ON , optic nerve; RAPD , relative afferent pupillary defect; RE , refractive error; VOR , vestibulo-ocular reflex. Early-onset Inherited Retinal Disorders LCA is a heterogeneous group of early-onset IRDs. LCA was initially described as severe vision loss in infancy associated with nystagmus, sluggishly reactive pupils, and nonrecordable full-field ERG. 14 , 15 However, the clinical spectrum also includes patients with relatively preserved vision early in life, 16 as in case 1 . LCA comprises approximately 5% of all retinal dystrophies and 10%–20% of all congenital blindness. 17 Symptoms of LCA include nystagmus (usually noted around 3 months of age), nyctalopia (in genetic causes with primary rod dysfunction), photodysphoria (in genetic causes with primary cone dysfunction), poor visual behavior, and eye poking (oculo-digital reflex). Signs on clinical examination include poor visual behavior or reduced acuity, paradoxical pupillary response (pupils constrict to dark rather than light), visual field constriction, reduced color discrimination, and ametropia (especially high hypermetropia, except in RPE65 -associated LCA, which is commonly associated with high myopia, as in case 1 ). 18 The fundus appearance is phenotypically heterogeneous, from a normal-appearing fundus to grossly abnormal retinal appearance with macular involvement with or without peripheral pigmentary changes. On careful examination, most patients with normal-appearing fundi have peripheral vascular attenuation. The differential diagnosis of LCA includes other IRDs, 19 such as congenital stationary night blindness (CSNB), achromatopsia, blue cone monochromacy, and syndromic conditions associated with an early-onset IRD ( Supplement 1 , available at jaapos.org ). Electrophysiology and ophthalmic imaging complement the clinical examination and aid in phenotypic characterization ( Supplement 2 , available at jaapos.org ). Definitive diagnosis is made by genetic testing. Patients benefit from referral to an IRD specialist, and those in remote areas may be able to access this care via telehealth. Cerebral/Cortical Visual Impairment Cerebral/cortical visual impairment (CVI) 20 encompasses a spectrum of visual impairments caused by an underlying structural or functional brain abnormality ( Table 2 ) that affects the development of visual processing pathways and is characterized by deficits in visual function and functional vision. 20 , 21 The visual dysfunction in CVI is greater than expected based on any comorbid ocular conditions, and CVI should be differentiated from other ocular conditions associated with poor visual behaviors ( Table 1 ). This is accomplished by taking a detailed history, including developmental and family history, assessing the visual behavior, and performing a complete eye examination, including cycloplegic retinoscopy and dilated fundus examination, with special attention to the optic nerve head and retina. Neuroimaging, electrophysiology, and genetic testing (discussed below) may also aid in narrowing the differential diagnosis. Table 2. Neurologic disorders and visual characteristics associated with cerebral/cortical visual impairment (CVI) Neurologic disorders that may cause CVI Head trauma (including nonaccidental trauma) Hypoxic-ischemic encephalopathy Hydrocephalus Infections (meningoencephalitis) Metabolic and genetic disorders Prematurity with periventricular leukomalacia Seizures (especially with epileptic encephalopathy) Structural brain malformations (eg, schizencephaly) Toxic- or drug-related encephalopathy Visual characteristics Lower-order visual function Decreased visual acuity Decreased contrast sensitivity Visual field deficits Higher-order visual function Adverse effect of visual complexity Motion processing abnormalities Deficits of recognition (agnosias), such as prosopagnosia (difficulty recognizing faces) Ocular motor deficits Increased saccade latency (time to visual response) Asymmetric pursuit Decreased fixation stability Visual behaviors Eccentric gaze preference Fluctuation of vision with environment or physical state (eg, illness or fatigue) Photophobia or light gazing Difficulty with visual novelty Open in a new tab CVI leads to manifestations such as visual acuity loss, higher visual function deficits, and oculomotor abnormalities. 22 , 23 Reduced visual acuity may not be the primary complaint of patients with CVI, especially in children who present after infancy. It is important to recognize that the visual behaviors of infants with CVI ( Table 2 ) do not always differ from those with other causes of low vision. For example, photophobia and light gazing can occur in both CVI and IRDs. 24 , 25 Therefore, history and clinical examination are critical for differentiation. In a child with a neurologic condition associated with CVI ( Table 2 ), abnormal visual behavior for age, no nystagmus, and normal ocular anatomy, a presumptive diagnosis of CVI may be made pending further investigations (such a neuroimaging). Nystagmus is not a feature of CVI per se; the presence of nystagmus should raise the suspicion of an early IRD or subtle optic neuropathy even if there is no apparent fundus pathology, since nystagmus in CVI typically suggests coexisting anterior visual pathway disease. 5 In children with optic nerve and/or retinal pathology, a diagnosis of CVI can be made if the degree of visual dysfunction is greater than expected based on the severity of the ocular abnormalities. If optic nerve and/or retinal pathology is suspected to be comorbid with CVI, additional workup including ophthalmic imaging, electrophysiology, and genetic testing may be indicated to clarify the diagnoses. 26 , 27 Examination and/or neuroimaging under anesthesia may be indicated in select cases when medically appropriate. Importantly, visual function (measured in the eye clinic) and functional vision, or how the child uses vision in everyday life at home, may differ. 28 Functional vision may be evaluated using semi-structured history-taking inventories 29 – 31 and functional vision assessments, which are routinely performed by teachers for the visually impaired and other allied health personnel. A multidisciplinary approach to CVI is critical, as CVI is a multilevel and multidimensional clinical condition with challenges in diagnosis and characterization, especially in the early years of childhood. Oculomotor Apraxia An infant with oculomotor apraxia (OMA), characterized by difficulty in initiating saccades, may also appear to be visually impaired. 32 In response to a peripheral target, a child with OMA generates a head thrust past the target and the vestibular ocular reflex is used to fixate the target. The head position subsequently returns to normal. However, the characteristic head thrusts do not appear until babies have sufficient neck control to achieve this movement, typically around the age of 6 months. 33 Therefore, infants with OMA are frequently thought to be blind before the onset of head thrusting because they do not track normally. In congenital OMA (COMA), 34 horizontal saccades are affected, but vertical saccades are usually normal. Idiopathic COMA (also known as Cogan’s OMA) often improves over time, though developmental delay is common. OMA may be associated with brain malformations, especially in the cerebellum, and retinal dystrophy (Joubert syndrome), as well as other genetic disorders, such as ataxia telangiectasia and Gaucher disease. 32 OMA may also present later in childhood or in adulthood as part of a neurologic disorder, such as Balint syndrome. 35 In non-idiopathic OMA, vertical saccades are more likely to be affected, and resolution is less common. 36 Neuroimaging may be necessary to rule out secondary causes of OMA and is generally indicated in children who also have developmental delays or other neurologic symptoms such as ataxia. 37 Delayed Visual Maturation DVM 9 , 10 , 38 indicates delayed visual responses where the child appears blind at around 6 weeks of age, with failure to fix and follow faces and toys. DVM is characterized by spontaneous improvement over 6 months, though visual behavior may not normalize. The final diagnosis of DVM is retrospective and made only once other conditions have been excluded ( Table 1 ). Although DVM has been typically considered benign, it is now known that DVM has a spectrum of presentations. 10 In type I DVM, there are no ocular or brain abnormalities, and visual behavior usually normalizes over 3–6 months. Type II DVM is associated with brain dysfunction and neurodevelopmental abnormalities. Vision improves over time but does not typically normalize. Type II DVM may be difficult to distinguish from CVI. In type III DVM, patients have a primary ocular condition (eg, ocular or oculocutaneous albinism), frequently associated with nystagmus. Over time and with visual maturation, visual acuity is less impaired compared to age-norms, but visual potential is limited by the underlying ocular condition. Congenital Optic Nerve Anomalies Most congenital optic nerve anomalies can be diagnosed on fundus examination. However, optic nerve hypoplasia (ONH) may initially be missed because the “double ring sign” simulates a normal-sized optic nerve and cup. 12 Infants diagnosed with ONH should undergo neuroimaging and endocrine work-up, since ONH can be associated with hypopituitarism and structural brain abnormalities in the syndrome known as septo-optic dysplasia. 12 For further details on ONH and differentiation from other causes of poor vision in infants, see Table 1 . A Teenager with Vision Loss (Case 2) A 15-year-old boy was evaluated emergently after reporting seeing a new, large black spot in the temporal peripheral field of the left eye. In the hours preceding this, he also experienced headache in addition to seeing a flash of light with blurred vision. Medical history was significant for a previously repaired atrial septal defect, a right middle cerebral artery stroke status post thrombectomy, now on aspirin, and migraine headaches. On physical examination, there was no focal weakness or sensory deficits. His visual acuity was 20/20 in both eyes with −6.50 sph glasses. Pupil reactivity was normal, without a RAPD. On confrontation visual field testing, he appeared to have constriction of his field in the far temporal periphery of the left eye ( Figure 3A ). The visual field was full in the right eye, and the remainder of the ophthalmologic examination was unremarkable. FIG 3. Open in a new tab A, Representative Goldmann visual fields demonstrating temporal crescent syndrome in the left eye. B, Axial and sagittal diffusion weighted imaging magnetic resonance imaging (MRI) of a 15-year-old boy with temporal crescent syndrome. See case 2 description in text. Without an identifiable ocular cause for the monocular vision loss, and because of the patient’s prior history of stroke, diagnostic neuroimaging was recommended. Computed tomography (CT) of the head was unremarkable. However, diffusion-weighted imaging (DWI) magnetic resonance imaging (MRI) of the brain revealed abnormal signal in the right lingual gyrus—in the most anterior aspect of the right occipital lobe ( Figure 3B ). A stroke in this location resulted in temporal crescent syndrome, a rare clinical scenario where a retrochiasmal lesion can produce a monocular visual field defect. The most anteromedial aspect of the occipital lobe correlates with the far temporal field of the contralateral eye, which does not have a corresponding location in the ipsilateral eye’s nasal visual field because the temporal visual field is wider. Thus, a lesion in this area produces a monocular visual field defect, known as the temporal crescent syndrome. 39 Differential Diagnosis in Older Children with Acquired or Juvenile-onset Vision Loss The differential diagnosis for older children and teenagers with acquired poor vision and an apparently normal eye examination includes juvenile-onset retinal disorders, acquired brain injury affecting the visual pathways, late recognition of CVI, optic neuropathies without optic disk edema, and nonorganic vision loss. Juvenile-onset Inherited Retinal Disorders In contrast to LCA or severe early-onset childhood retinal dystrophies, children may present with several IRDs in the later first decade or second decade of life. Some of these disorders include Stargardt disease ( ABCA4 -associated), juvenile neuronal ceroid lipofuscinosis (Batten disease, CLN3 ), juvenile retinoschisis, spinocerebellar ataxia type 7, occult macular dystrophy, and cone and cone-rod dystrophies. Most of these entities may be differentiated by clinical presentation, multimodal imaging, electrophysiology, and genetic confirmation. Hydroxychloroquine toxicity and photic retinal damage may present similarly to juvenile-onset IRDs but can usually be diagnosed based on patient history. Stargardt disease is one of the most common IRDs. Stargardt disease 1 (STGD1, OMIM 248200) is typically inherited as an autosomal recessive disorder due to pathogenic biallelic variants in ABCA4 . The pathophysiology relates to lipofuscin accumulation and retinal pigment epithelium (RPE) and photoreceptor cell death. 40 Lipofuscin deposits appear clinically as subretinal yellow-white flecks within the macula or more diffusely, in an annular pattern around the macula. Importantly, vision loss can precede obvious retinal changes on clinical examination in approximately 25%, 41 , 42 and the classic retinal flecks may be absent in approximately one-third of childhood cases ( Figure 4A ). 43 Absence of overt retinal findings on clinical examination early in the disease course may lead to misdiagnosis as nonorganic vision loss (NOVL). 42 FIG 4. Open in a new tab Multimodal imaging of a 17-year-old girl with Stargardt Disease. A, Color photographic images demonstrating a relatively normal appearing retina with the exception of pigmentary mottling and bull’s eye maculopathy. B, Fundus autofluorescence further accenting the bull’s eye pattern of hypo- and hyper-autofluorescent concentric rings. C, Optical coherence tomography demonstrates retinal thinning with loss of the foveal outer photoreceptor layer and ellipsoid band. Neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of progressive neurodegenerative lysosomal disorders. Currently, fourteen causative genes ( CLN1–14 ) 44 have been identified. The age of onset ranges from infancy to adulthood, and in most cases inheritance is in an autosomal recessive manner. In NCL, autofluorescent ceroid material accumulates in lysosomes and leads to vision loss and neurological manifestations, including seizures, motor deficits, cognitive decline, and eventual death. Juvenile NCL is most commonly caused by pathogenic variants in CLN3 . Vision loss is frequently the initial manifestation, and patients present to ophthalmologists between approximately 4 and 10 years of age. 45 As in early Stargardt disease, the retinal examination may initially appear normal. Cone-rod dystrophy refers to IRDs in which the cones are preferentially affected before rods. This leads to decreased visual acuity, color vision deficits, photosensitivity, and initially a central scotoma, followed by peripheral vision loss as the disease progresses. The macular findings may be subtle, and peripheral pigmentary changes are not seen initially. Cone or cone-rod dystrophy may be a feature of syndromic ciliopathies, including Alstrom syndrome, Jeune syndrome, and some types of Bardet-Biedl syndrome. Over a dozen genes, including ABCA4 , CRX , GUCY2D , GUCA1A , and RPGR, 46 have been reported in association with cone and cone-rod dystrophies. Characteristics of less common juvenile-onset IRDs, such as juvenile retinoschisis and occult macular dystrophy, are reviewed by North and colleagues. 47 Acquired Brain Injury and Late Recognition of CVI in Older Children As in the case described above, acquired brain injury due to trauma, tumor, or stroke involving the visual pathways can lead to visual field defects. Furthermore, widespread brain injury at older ages—for example, from bacterial meningitis, acute disseminated encephalomyelitis, or hypoxic-ischemic events—can cause more global damage to visual pathways, leading to reduced visual acuity and other visual deficits. Additionally, in some children who have primarily higher-order visual deficits, early-onset CVI may not be recognized until late childhood or adulthood, especially if visual acuity is normal or near-normal. 48 Deeper investigation through a CVI inventory or neuropsychological testing may be necessary to elicit the higher-order visual function deficits (eg, difficulties with identifying faces or objects and challenges with visual complexity, attention, memory, and visuo-spatial mapping) that suggest a diagnosis of CVI. Similar to infants with suspected CVI, the workup for older children generally involves neuroimaging, with electrophysiology and genetic testing if needed. Visual function and functional vision assessments are indicated to characterize the child’s visual deficits. Importantly, older children may have overlapping neurodevelopmental disorders (NDDs), such as dyslexia and autism spectrum disorder. 49 In these cases, neuropsychological assessments may aid in untangling the relative contribution of CVI and other NDDs to the child’s functional challenges. Optic Neuropathy without Optic Disk Edema Although patients with optic neuropathies often present with optic disk edema in the acute phase, the optic nerves may initially appear normal in certain conditions until the onset of optic atrophy approximately 4–6 weeks later. 50 This leads to challenges in diagnosis, and patients may initially be misdiagnosed as having NOVL or an early IRD. Optic neuropathies that may present without disk edema include retrobulbar optic neuritis, some hereditary optic neuropathies (such as Leber hereditary optic neuropathy [LHON], which classically presents acutely with pseudo-edema of the optic disk that may be difficult to detect with ophthalmoscopy), certain toxic, metabolic and compressive (due to a tumor or other mass lesion) optic neuropathies, intrinsic tumors of the optic nerve (eg, optic pathway gliomas), and traumatic optic neuropathy. 51 Examination findings supportive of an optic neuropathy include reduced acuity, peripheral visual field defects, a RAPD (if unilateral or asymmetric optic nerve damage), and color vision deficits. 51 Photostress testing, which is preferentially normal in an optic neuropathy but delayed in a maculopathy, and pattern ERG can help to differentiate optic nerve from retinal pathology. If possible, automated or kinetic perimetry should be performed. OCT demonstrates thinning of the retinal nerve fiber layer (RNFL) and macular ganglion cell layer when optic atrophy develops. In most children with acquired optic neuropathies, neuroimaging is indicated to rule out a compressive lesion. Other workup, such as genetic testing and metabolic labs, may be indicated based on the suspected etiology of optic neuropathy. Nonorganic Vision Loss NOVL, or functional vision loss, is frequently suspected when a child has decreased visual acuity or a visual field defect and the eye examination appears normal. It is important to exclude the above differential diagnoses before concluding that a child has NOVL. The incidence of NOVL has been reported to be 1.75% in school-age children and can comprise 1%–5% of a general ophthalmologist’s practice. 52 Risk factors for NOVL include trauma (not necessarily ocular), preexisting ocular disease (with or without visual symptoms), emotional crisis, and relatives or friends who have had conversion disorders. Importantly, patients with NOVL can have coexisting organic disease processes. The term functional overlay (seen in up to 50% of patients with NOVL 53 ) is used to describe someone with true organic disease, but whose symptoms are unexplained or disproportionate to any organic disease. It can be difficult to recognize NOVL. Therefore, the pediatric ophthalmologist should conduct a complete ophthalmologic examination to identify organic disease, distinguish organic from nonorganic findings, and prove that the patient has an intact visual system that functions better than the patient claims. 54 Specific examination techniques are described below. Many children who are eventually diagnosed with juvenile-onset IRD, optic neuropathy, and brain-based visual impairment are initially believed to have NOVL. Thus, it is important to maintain a high suspicion for organic etiology even when inconsistencies in the examination suggest NOVL. Workup Children presenting with reduced vision or poor visual behavior should have a thorough medical and family history, pedigree, and a comprehensive clinical examination, including cycloplegic refraction and dynamic retinoscopy to assess for accommodative insufficiency. Depending on age and ability of the patient as well as the suspected diagnosis, ancillary testing may include ophthalmic imaging, perimetry, electrophysiology, genetic testing, and neuroimaging. Some of these tests may require sedation in young children. Older children may be able to cooperate with neuropsychological tests of visual perception to diagnose CVI and specialized examination techniques to identify NOVL, if indicated. Ophthalmic Imaging Standard color or wide-field fundus photography, which captures both the posterior pole and peripheral retina, is useful to document the initial disease state, monitor for disease progression, and provide context for other diagnostic imaging modalities. For patients with nyctalopia and and/or peripheral visual field loss, wide-field imaging is more likely to capture retinal pathology than standard fundus photography. Fundus autofluorescence (FAF) is a noninvasive imaging technique with which RPE fluorophores such as lipofuscin can be readily identified and quantified. Short-wave FAF (SW-FAF) includes blue (488 nm) or green (518 nm) wavelengths and can aid in the diagnosis of IRDs, especially early in the disease when retinal pathology may not be readily evident on clinical examination ( Figure 4B ). When repeated examinations are needed, reduced illumination techniques are favored over traditional short wavelength protocols to limit retinal phototoxicity (eg, Stargardt disease and other IRDs). Diagnostic alternatives limiting this risk include macular or wide-field FAF using reduced illumination (25%), longer exciting wavelengths, infrared FAF, or near-infrared fundus reflectance (NIR). 55 , 56 NIR (787 nm) is a separate imaging modality from SW-FAF that also provides insight on RPE health. NIR-autofluorescence highlights choroidal and RPE melanin-associated fluorophores and complements SW-FAF studies. 57 It is instrumental in the pediatric population, because images can be quickly and easily acquired, providing enhanced contrast and spatial resolution. It is also beneficial in diagnosing chorioretinal diseases where there are minimal funduscopic findings. Fluorescein Angiography (FA) is uncommonly used for diagnosing or following IRDs in children. However, FA is applicable in the workup of suspected inherited vascular disorders, such as familial exudative vitreoretinopathy (FEVR) spectrum disorders. FA identifies the extent of peripheral avascular retina and readily identifies neovascularization, guiding treatment to prevent progression and retinal detachment. 58 In children who have difficulty cooperating with intravenous FA, oral FA may be used. 59 Optical Coherence Tomography (OCT) of the macula and optic nerve are mainstays in the workup of children with vision loss. High-density macular volume scans with documentation of central retinal thickness provide a useful baseline for monitoring progression in structural features and helping to monitor for cystoid macular edema, epiretinal membranes or macular schisis. Macular OCT can be used to diagnose congenital structural abnormalities such as foveal hypoplasia. For IRDs, macular OCT is very helpful in identifying deposits at the level of the RPE and loss of outer retina (photoreceptors, ellipsoid zone, and external limiting membrane) in the foveal and macular area ( Figure 4C ). OCT RNFL demonstrates thinning in eyes with optic atrophy. Thinning of the ganglion cell layer (GCL) in the macula also occurs in optic atrophy, and often precedes RNFL thinning. Importantly, OCT of the GCL more accurately correlates with the degree of ganglion cell loss in optic neuropathies that are associated with initial optic disk edema or pseudo-edema (such as LHON). 60 Due to transsynaptic degeneration, an early insult of the occipital cortex can result in optic atrophy with associated thinning of the RNFL and GCL on OCT. 61 Perimetry Perimetry or mapping of the visual field (VF) provides valuable information about the integrity of the afferent visual pathways. VF defects that respect the vertical midline, such as bitemporal or homonymous hemianopias, are indications of an intracranial process and mandate neuroimaging. Patients with optic neuropathies may demonstrate an enlarged blind spot, cecocentral defect, nasal step, peripheral constriction, or generalized depression. 51 Maculopathies are typically associated with a central scotoma, but this can be variable. Performing perimetry in young children (<7 or 8 years of age) can be challenging and the results unreliable. While the Goldmann perimeter has been considered the gold standard for kinetic perimetry and remains valuable because of its ability to assess the entire VF, this test is no longer available in most eye clinics. Arc perimetry is an alternative method of kinetic perimetry that can be performed in infants and young children. 62 In most clinics, standard automated perimetry has largely replaced manual testing. Automated kinetic VF testing is available on the Octopus 900 (Haag-Streit, Köniz, Switzerland). Static visual field testing with Humphrey Field Analyzer (Zeiss Meditech Inc, Dublin, CA) has advantages of automated indices of sensitivity loss and performance parameters to assess reliability. Fundus-guided perimeters (microperimeters) are also useful for measuring macular function in patients with eccentric fixation due to maculopathy and to investigate structure-function correlations. 63 Additionally, virtual reality–based platforms may prove to be helpful for testing the pediatric population. 64 In children with low vision, perimetry is important not only for diagnosis purposes but also to determine legal blindness and disability status and to counsel patients on visual limitations. Electrophysiology The full-field electroretinogram (ffERG) 65 is important for diagnosis of IRDs, staging of diffuse photoreceptor disease, and evaluating the rod and cone function of the entire retina. An ffERG is appropriate for patients with macular changes (eg, X-linked retinoschisis, Stargardt disease, and macular pattern dystrophies) and those with suspected rod-cone, cone-, or cone-rod dystrophy. In patients with small lesions that are limited to the macula, ffERG may be normal, and multifocal ERG (mfERG) may identify the affected area. However, mfERG may be limited in patients who have marked central loss of vision and cannot maintain steady, central fixation. In infants with nystagmus, the ffERG can help distinguish LCA from other IRDs including cone dystrophy, CSNB, and juvenile retinoschisis ( Supplements 1 – 2 ). In children with early-onset severe retinal dystrophies, such as LCA, the ffERG classically demonstrates an unrecordable scotopic and photopic response. In contrast, a patient with albinism or a central nervous system cause for a decreased visual response will demonstrate a normal ffERG. The International Society for Clinical Electrophysiology of Vision (ISCEV) provides a standard for visual electrodiagnostic procedures. 66 Visual evoked potential (VEP) may be useful in some children with vision loss, particularly those with suspected CVI or NOVL. Clinical VEP is a selective aspect of whole-brain EEG recording where electrodes are placed over the occipital cortex to measure electrical signals in the brain that occur when a visual stimulus is presented. The visual stimulus is usually a flash or a checkerboard pattern. 67 Repeated stimulation of the visual system with a time-locked stimulus allows the brain to respond with a latency and amplitude specific to the stimulus. Both flash and pattern VEP have been studied for prognostication in CVI. 68 , 69 Quantification of visual acuity and other aspects of low-, mid-, and high-level visual function in children with CVI have been performed using steady-state sweep and step VEP. 70 , 71 Though potentially helpful in characterizing visual function in children with CVI, electrophysiology is typically not required to make the diagnosis. In patients with suspected NOVL, a VEP response that is inconsistent with the reported level of visual acuity may support the diagnosis. 53 Genetic Testing Genetic testing is appropriate for most patients with a presumed genetic retinal degeneration. Methods for identifying the genetic cause of IRDs have advanced significantly, such that a causative pathogenic variant can be identified in up to 56%–75% of patients with inherited retinal disorders. 72 – 76 Genetic testing should also be considered in children with suspected hereditary optic neuropathies and those with CVI presenting with syndromic and other neurodevelopmental manifestations. 77 , 78 Genetic testing can take multiple forms, including single gene analyses, panel-based tests for specific diagnostic groups (such as IRDs), or more expansive testing, such as whole exome and whole genome sequencing. Chromosomal microarray may be indicated for patients with neurodevelopmental or syndromic disorders with ocular manifestations. 65 For more extensive genetic testing, it is best to work with a medical geneticist. Research-sponsored or industry-sponsored panels may be free of charge to the patient, but research and/or industry relationships should be disclosed to patients. Genetic testing should be ordered and interpreted by an experienced physician, who can provide interpretation of the results as well as pre-and post-test genetic counseling. Another option is collaboration with a genetic counselor and medical geneticist. Genetic counseling for early-onset disease should be also offered again, later in life, to provide the greatest benefit. 79 – 81 Genetic testing plays an important role in establishing a definitive diagnosis, guiding treatment, determining eligibility in clinical trials, providing patients and families with specific inheritance risks, and providing insight into possible comorbidities and overall prognosis. It is critically important to offer genetic testing in children with IRDs as a molecular diagnosis may provide access to FDA-approved treatment in the case of patients with LCA associated with biallelic RPE65 pathogenic variants. Importantly, ocular findings may precede systemic manifestations of syndromic causes of early-onset retinal dystrophies such as metabolic disorders or ciliopathies ( Supplement 1 ). A molecular diagnosis can guide management and surveillance for systemic manifestations. For example, an infant presenting with apparently isolated LCA with pathogenic variants in CEP290 or ICQB1 should be monitored for renal and multisystem involvement. Finally, genetic testing can provide recurrence risk for future offspring and aid in family planning. Ideally, an IRD specialist or someone familiar with the merits of specific clinical trials should guide patients and families as they navigate the potential trials available. Neuroimaging Neuroimaging is a vital tool for establishing a diagnosis in children with poor vision with suspected brain-based visual impairment and may also be indicated in patients with optic neuropathies, oculomotor apraxia, and IRDs that are associated with neurologic or neurodevelopmental disorders. Additionally, neuroimaging is helpful in some patients with suspected NOVL when underlying organic pathology cannot be ruled out. Communicating with the neuroradiologist before and after the study promotes targeted neuroimaging and improves the interpretation beyond the capabilities of the ophthalmologist or radiologist alone. 82 The three primary neuroimaging modalities relevant to children with vision loss include ultrasonography (USG), CT, and MRI. USG is a noninvasive study that is particularly useful in infants (with an open anterior fontanelle) to identify intraventricular hemorrhage and periventricular leukomalacia, which are risk factors for CVI. 83 Though performing head USG is out of the purview of a pediatric ophthalmologist, obtaining records of USG studies completed during infancy may be helpful in confirming the diagnosis of neurologic conditions that are associated with CVI, enabling the ophthalmologist to defer ordering additional radiologic studies later in life. CT is most helpful in cases of head trauma to quickly identify intracranial hemorrhage and fractures without necessitating sedation. However, CT uses ionizing radiation, with carcinogenic potential. Therefore, the pediatric ophthalmologist should consider whether a study must be performed, especially in children with genetic conditions associated with cancer risk. Finally, a normal CT head does not exclude a stroke or subtle congenital, inflammatory, vascular, or neoplastic conditions. MRI scans are less readily available than CT, are lengthier, and may require sedation in children. However, MRI far surpasses CT in the ability to characterize soft tissue findings and, in certain instances, has higher sensitivity for pathology (eg, identification of acute stroke). Conventional MRI provides diagnostic value for imaging neurologic conditions that are associated with CVI 84 , 85 and some IRDs (eg, CEP290 with Joubert syndrome). MRI using diffusion tensor imaging (DTI), which provides the pattern of diffusion of water molecules in brain tissue, is becoming increasingly clinically available. DTI is useful for identifying white matter tract injury and delayed myelination. 86 Caution should be exercised in overdependence on MRI results, as structural MRI may be normal in patients with CVI who have functional abnormalities of the visual pathways. A normal structural brain MRI does not rule out the diagnosis of CVI. In a cohort study of children with CVI with good visual acuity, Chandna and colleagues 31 found that 7 of 31 patients (23%) had normal structural MRI scans. Finally, MRI is contraindicated in patients who have a metallic foreign body, a metallic prosthesis, or certain implanted medical devices such as most pacemakers and automated defibrillators. Renal failure is also a contraindication to gadolinium administration. Neuropsychological Tests of Visual Perception for CVI In patients with suspected abnormalities of higher-order visual processing, neuropsychological assessment may be necessary to diagnose CVI and characterize specific deficits. In general, children must have adequate cognition and visual acuity to participate in neuropsychological tests of visual perception. Most assessments require a developmental age of at least 3 years. The Children’s Visual Impairment Test for 3- to 6-year-olds (CVIT 3–6) was designed to assess visual perceptual deficits in CVI and has been demonstrated to be reliable and valid. 87 Other neuropsychological tests of visual perception used in children include the Test of Visual Perceptual Skills, fourth edition, 88 Motor-Free Visual Perception Test, fourth edition, 89 and Beery-Buktenica Developmental Test of Visual-Motor Integration. 90 A detailed description of these assessments is beyond the scope of this workshop, and these tests generally require a neuropsychologist for administration and interpretation. Examination Techniques for Nonorganic Vision Loss Specific examination techniques to confirm the diagnosis of NOVL are largely dependent on age, cognitive ability, and the complaint of vision loss. 91 When a patient’s complaint is total blindness, several tests may suggest NOVL. Children with NOVL may demonstrate difficulty signing their name or touching their fingers together, whereas truly blind patients without motor compromise will easily perform these tasks since they do not require vision. In patients reporting complete monocular vision loss, evidence that the child can see 4 dots on the Worth 4-Dot test or has gross stereopsis is indicative of some degree of vision in both eyes. 92 Preserved pupillary responses, normal refixation movements in response to prisms (prism fixation test), and normal optokinetic nystagmus and VEP responses are also signs that the child is not completely blind. An important caveat is that pupillary responses may be normal in CVI without anterior visual pathway compromise. For more detailed discussion of tests for NOVL, see Raviskanthan and colleagues 53 and other resources. 91 Management All children with low vision should undergo standard treatment for treatable ophthalmologic comorbidities, such as refractive errors (including accommodative insufficiency), strabismus, and amblyopia. Special considerations for infants and young children with visual impairment are discussed below, followed by recommendations for older children and teenagers with visual impairment. Infants and Young Children with Visual Impairment Infantile-onset, irreversible visual impairment can result in delayed motor, language, social, and cognitive development. 93 – 103 Additionally, low vision has been found to impact emotional bonding and social interaction, and impair or delay the acquisition of other developmental milestones (eg, sound and tactile localization, fine motor skills, object permanence, formation of language, and development of self-concept). These delays can lead to lifelong morbidity, and among school-aged children, decreased vision can result in lower educational attainment. 104 , 105 Children with visual impairment benefit from a multidisciplinary approach to care. 106 Early referral for placement into an early intervention low vision program is essential. These programs differ from state to state, nationally, and internationally. A list of some of these programs can be found on the AAPOS Pediatric Low Vision Rehabilitation Resources Website ( https://aapos.org/education/educational-resources/pediatric-low-vision-education ). It is the role of the pediatric ophthalmologist to ensure that children with visual impairment receive timely referrals for low vision rehabilitation services. Furthermore, the pediatric ophthalmologist can provide prognostic information that may influence the rehabilitation plan (eg, a child with an IRD who is expected to have progressive vision loss may benefit from braille training even if visual acuity is sufficient for reading text at the initial evaluation). In addition to the ophthalmologist, other important members of this multidisciplinary team may include the following 107 – 110 : (1) certified low vision therapists to offer instruction on the use of optical devices, nonoptical devices, and assistive technology and help determine the need for environmental modifications in home or school 111 ; (2) certified vision rehabilitation therapists to teach adaptive independent living skills and work with individuals in their homes; (3) certified orientation and mobility specialists (COMS or O&Ms) to train individuals to travel independently and safely in the home and community and provide long cane training; (4) teachers of students who are visually impaired (TVIs/TSVIs) to provide direct instruction and modification of the general educational curriculum for children with visual impairment and complete functional visual assessments, identify the educational consequences of a child’s visual impairment, and make recommendations to maximize learning, including braille instruction if appropriate 112 ; (5) occupational therapists to teach children and their family strategies to improve their ability to be successful at home, in school, and in the community 113 – 115 ; and (6) low vision optometrists/ophthalmologists to perform specialized assessments to inform rehabilitation planning. In the United States, after a referral is placed, children aged 0–3 years are assigned to an early intervention team 116 , 117 who develop an individualized family service plan. This plan helps young children attain milestones and may include all the individuals listed above as well as speech and physical therapists. After age 3 years, children are provided resources by their school districts, which differ with respect to available services. Services are often guided by an individualized education program/plan (IEP) or 504 plan. 118 An IEP is covered under the Individuals with Disabilities Education Act and is required for any child who qualifies as a student with a disability (such as blindness) under state law who requires “specially designed instruction” to access the curriculum. IEPs modify the curriculum for students. To qualify for a 504 plan, a student must have a disability that limits one or more major life activities. A 504 plan is covered under Section 504 of the Rehabilitation Act of 1973. A 504 plan describes accommodations that will help the student succeed in the classroom and follow the curriculum—but without changing the curriculum itself. Finally, quality of life is significantly impacted by visual impairment. 119 , 120 Patients may exhibit both anxiety and depression and may benefit from early referral to a behavioral specialist. 121 This applies to both young children with congenital causes of visual impairment and older children with acquired vision loss. In order to ensure that children with visual impairment receive appropriate early intervention and services, all pediatric ophthalmologists should communicate in writing with the school about a child’s current level of vision, visual prognosis, and recommended accommodations. Older Children and Teenagers with Visual Impairment A child with visual impairment can benefit from several assistive devices, which are usually introduced by members of the multidisciplinary care team, such as vision rehabilitation specialists. Modern technological innovations include devices that adjust the font, magnification, and/or contrast of printed material. Others provide optical character recognition and translate text into audible speech. Audiobooks have become widespread and affordable and may be available for classroom texts. Some students benefit from the use of a tablet or laptop computer linked to the classroom’s smart projector or smart board via Bluetooth. A smartphone can use artificial intelligence to process visual input from the camera and narrate a description of what the camera “sees,” offering an exciting potential for patients. The AAPOS Pediatric Low Vision Rehabilitation Resources website has a list of websites for families to access resources ( https://aapos.org/education/educational-resources/pediatric-low-vision-education ). The ultimate goal is to provide access to education in the least restrictive and safest possible environment. It is of critical importance that any child with a visual impairment who is approaching or already at driving age be appropriately evaluated in the eye clinic. This can be a difficult conversation, as the patient, family, and physician may all have different thoughts and feelings as to whether driving is possible. One neutral way to introduce this subject in office is with the question, “How are you and your family feeling about driving?” This allows for a quick assessment of the patient and family’s ideas on the topic, so that a starting point can be established. Vision requirements for driving are established by state legislation and vary significantly from state to state. 122 Minimum visual acuity levels are required, and may differ depending on time of day, weather conditions, or size of the local population. Visual field requirements are also sometimes specified, including whether the field needs to be continuous or can be interrupted. In some states, bioptic telescopes are allowed for driving, and different powers of devices may be enumerated. Finally, certain states will allow for behind-the-wheel testing with a specialist or a medically based driving evaluation conducted by an occupational therapist or certified driver rehabilitation specialist, which can help assess safe driving ability. Driving restrictions by state can be found on the EyeWiki website maintained by the American Academy of Ophthalmology ( https://eyewiki.org/Driving_Restrictions_per_State ). Pediatric ophthalmologists assessing potential drivers with visual impairments are encouraged to be familiar with local state legal requirements for driving. Patients and families benefit from understanding that regardless of what the law says about their legal ability to drive, they should not drive if they do not feel safe to do so. Additionally, the pediatric ophthalmologist should be a part of transitioning care when young adults with visual impairment reach early adulthood. 123 Transition periods to independent adolescence and adulthood are times of risk and vulnerability for patients with special needs, 124 because they may lose resources and services, as well as their advocacy and support teams. Strategies for making successful transitions of care to adulthood are listed in Table 3 . Table 3. Strategies for successfully transitioning children with visual impairment to care by adult providers 120 ., 121 Allow for an overlap in care with adult providers prior to stopping pediatric care to prevent gaps in coverage. Use direct communication with care teams and providers. Initiate discussions about age-appropriate topics to consider how visual impairment will impact certain milestones (eg, driving, transition to high school and college, independent living, etc). Create an inventory of means that is patient specific. Include the patient in discussions about their needs. Be aware of local, regional, and national organizations and agencies that can help patients. This includes educational institutions as well as occupational agencies. Be specific in the documentation within the clinical note; use verbiage of medical necessity for resources and describe the impact of visual impairment on vocation and activities of daily living to help facilitate access for resources. Open in a new tab Summary and Conclusions The differential diagnosis for infants and young children with poor visual behavior without obvious ocular or refractive abnormalities includes IRDs (including LCA), CVI, oculomotor apraxia, DVM, congenital optic nerve anomalies, and disorders of pigmentation such as albinism. In older children and teenagers who have decreased vision and an apparently normal eye examination, the differential includes juvenile-onset IRDs, acquired brain injury, late recognition of CVI, optic neuropathies without disk edema, and NOVL. Ophthalmic imaging, perimetry, electrophysiology, genetic testing, neuroimaging, neuropsychologic testing, and specific examination techniques to identify NOVL may be required to clarify the diagnosis. Multidisciplinary support, which may include other physicians (neurologists, geneticists), low vision optometrists, and allied health personnel and educators (eg, occupational therapists, TVIs, and orientation and mobility specialists) are critical at all ages. The pediatric ophthalmologist must communicate with the care team and school to ensure that accommodations and rehabilitation efforts are appropriate to the child’s diagnosis and current and future level of vision. Finally, the pediatric ophthalmologist plays an important role in assisting an individual with low vision to transition smoothly to adult care, which is a time of increased vulnerability in all patients with disabilities. Supplementary Material 1 NIHMS2085264-supplement-1.pdf (91.3KB, pdf) 2 NIHMS2085264-supplement-2.pdf (681.5KB, pdf) Funding support: NIH/NEI K23EY033790 (MYC), Knights Templar Eye Foundation (MYC), Research to Prevent Blindness (MYC). Footnotes Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. Workshop presented at the 49th Annual Meeting of the American Association for Pediatric Ophthalmology and Strabismus, Austin, Texas, April 7–11, 2024. References 1. Lorenz B, Gyurus P, Preising M, et al. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci 2000;41:2735–42. [ PubMed ] [ Google Scholar ] 2. Felius J, Thompson DA, Khan NW, et al. Clinical course and visual function in a family with mutations in the RPE65 gene. 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