Optic Atrophy 5 |
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Constriction of peripheral visual field, Central scotoma, Abnormality of pattern visual evoked po... |
OMIM:610708 |
Tritanopia |
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Tritanomaly, Dyschromatopsia, Abnormal light-adapted electroretinogram, Color vision defect |
OMIM:190900 |
Optic Atrophy 1 |
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Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Abnormal amplitude of pattern ... |
OMIM:165500 |
Optic Atrophy 8 |
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Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment |
OMIM:616648 |
Occult Macular Dystrophy |
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Abnormal multifocal electroretinogram, Slow decrease in visual acuity |
OMIM:613587 |
Stargardt Disease |
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Central scotoma, Nyctalopia, Reduced visual acuity, Abnormality of visual evoked potentials, Colo... |
ORPHA:827 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:1389 |
Usher Syndrome, Type I |
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Visual loss, Abnormal electroretinogram, Undetectable electroretinogram |
OMIM:276900 |
Macular Dystrophy, Vitelliform, 2 |
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Abnormal electroretinogram, Reduced visual acuity, Visual impairment |
OMIM:153700 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Abnormal amplitude of pattern ... |
OMIM:125250 |
Primary Non-Essential Cutis Verticis Gyrata |
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Abnormality of pattern visual evoked potentials, Reduced visual acuity |
ORPHA:357225 |
Canavan Disease |
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Abnormality of visual evoked potentials, Blindness, Visual impairment |
ORPHA:141 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
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Abnormal electroretinogram, Reduced visual acuity |
OMIM:165510 |
Choroideremia |
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Myopia, Nyctalopia, Abnormal electroretinogram, Abnormality of vision, Progressive visual loss, V... |
ORPHA:180 |
Leber Congenital Amaurosis 5 |
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Visual loss, Hypermetropia, High hypermetropia, Visual impairment, Undetectable electroretinogram |
OMIM:604537 |
X-Linked Retinoschisis |
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Abnormality of vision, Abnormal electroretinogram |
ORPHA:792 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Abnormal flash visual evoked potentials, Nyctalopia, Reduced visual acuity |
OMIM:618195 |
Progressive Cone Dystrophy |
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Photophobia, Abnormal electroretinogram, Visual impairment, Color vision defect |
ORPHA:1871 |
Retinitis Pigmentosa 39 |
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Abnormal electroretinogram, Visual impairment, Visual field defect |
OMIM:613809 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Abnormality of visual evoked potentials, Abnormal electroretinogram, Visual impairment |
ORPHA:1933 |
Oculocutaneous Albinism Type 1 |
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Photophobia, Abnormality of visual evoked potentials, Reduced visual acuity, Amblyopia |
ORPHA:352731 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials |
OMIM:609304 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Abnormality of visual evoked potentials, Myopia, Abnormal electroretinogram |
ORPHA:2971 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Abnormality of visual evoked potentials, Constriction of peripheral visual field, Progressive vis... |
ORPHA:1215 |
Blue Cone Monochromatism |
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Blue cone monochromacy, Photophobia, Abnormal electroretinogram, Visual impairment |
ORPHA:16 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormality of visual evoked potentials |
ORPHA:320401 |
Sorsby Fundus Dystrophy |
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Blindness, Abnormal electroretinogram |
OMIM:136900 |
Retinitis Pigmentosa 31 |
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Abnormal electroretinogram, Visual field defect |
OMIM:609923 |
Ataxia With Vitamin E Deficiency |
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Abnormality of visual evoked potentials, Nyctalopia, Visual impairment |
ORPHA:96 |
Retinal Cone Dystrophy 1 |
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Photophobia, Abnormal electroretinogram, Progressive visual loss, Color vision defect |
OMIM:180020 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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Undetectable electroretinogram, Abnormality of pattern visual evoked potentials, Progressive visu... |
ORPHA:1947 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Abnormality of visual evoked potentials, Central scotoma, Color vision defect, Slow decrease in v... |
OMIM:601152 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Undetectable visual evoked potentials, Progressive night blindness, Constriction of peripheral vi... |
ORPHA:436245 |
Mohr-Tranebjaerg Syndrome |
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Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Abnormality of visual evok... |
ORPHA:52368 |
Ã…land Islands Eye Disease |
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Myopia, Abnormal electroretinogram, Difficulty adjusting from light to dark, Reduced visual acuit... |
ORPHA:178333 |
Cone-Rod Dystrophy 12 |
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Central scotoma, Nyctalopia, Reduced visual acuity, Abnormal light- and dark-adapted electroretin... |
OMIM:612657 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
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Blindness, Visual loss, Undetectable visual evoked potentials, Progressive visual loss, Visual im... |
OMIM:601338 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Abnormality of visual evoked potentials, Visual loss, Abnormal electroretinogram |
OMIM:125310 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormality of visual evoked potentials, Amblyopia |
OMIM:617523 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
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Photophobia, Abnormality of visual evoked potentials, High myopia |
OMIM:614457 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Myopia, Cerebral visual impairment, Abnormal electroretinogram, Hypermetropia, Abnormality of vis... |
OMIM:616875 |
Congenital Stationary Night Blindness |
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Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... |
ORPHA:215 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Myopia, Abnormal electroretinogram, Visual impairment |
ORPHA:1574 |
Oligocone Trichromacy |
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Photophobia, Abnormal electroretinogram |
ORPHA:75378 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Abnormality of visual evoked potentials, Visual loss |
OMIM:256600 |
Night Blindness, Congenital Stationary, Type 1C |
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Congenital stationary night blindness, Myopia, Abnormal electroretinogram, Reduced visual acuity |
OMIM:613216 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormality of visual evoked potentials, Myopia |
OMIM:601455 |
Friedreich Ataxia |
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Abnormality of visual evoked potentials, Reduced visual acuity, Visual impairment, Visual field d... |
OMIM:229300 |
Oculocutaneous Albinism Type 1A |
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Photophobia, Visual impairment, Abnormality of visual evoked potentials |
ORPHA:79431 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Undetectable visual evoked potentials, Visual loss, Cerebral visual impairment |
OMIM:619051 |
Mepan Syndrome |
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Abnormality of visual evoked potentials, Reduced visual acuity |
ORPHA:508093 |
Krabbe Disease |
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Abnormal flash visual evoked potentials, Blindness |
OMIM:245200 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... |
ORPHA:168491 |
Retinitis Pigmentosa 93 |
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Constriction of peripheral visual field, Reduced visual acuity, Undetectable electroretinogram |
OMIM:619845 |
Late-Infantile/Juvenile Krabbe Disease |
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Abnormality of visual evoked potentials, Visual loss, Blindness, Visual impairment |
ORPHA:206443 |
Retinitis Pigmentosa 54 |
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Nyctalopia, Abnormal electroretinogram, Visual impairment |
OMIM:613428 |
Cln5 Disease |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:228360 |
Pelizaeus-Merzbacher Disease |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:702 |
Bothnia Retinal Dystrophy |
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Nyctalopia, Abnormal electroretinogram |
OMIM:607475 |
Retinitis Pigmentosa 19 |
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Constriction of peripheral visual field, Nyctalopia, Abnormal electroretinogram, Reduced visual a... |
OMIM:601718 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment |
ORPHA:480898 |
Retinitis Pigmentosa 7 |
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Nyctalopia, Constriction of peripheral visual field, Abnormal electroretinogram, Adult-onset nigh... |
OMIM:608133 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:485421 |
Retinitis Pigmentosa 69 |
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Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Undetectable electror... |
OMIM:615780 |
Retinitis Pigmentosa 4 |
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Blindness, Nyctalopia, Abnormal electroretinogram, Reduced visual acuity, Visual field defect |
OMIM:613731 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
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Nyctalopia, Abnormal electrooculogram |
OMIM:179840 |
Cone-Rod Dystrophy 2 |
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Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ... |
OMIM:120970 |
Ruvalcaba Syndrome |
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Abnormality of visual evoked potentials, Abnormal electroretinogram |
ORPHA:3121 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Undetectable visual evoked potentials |
ORPHA:163961 |
Usher Syndrome Type 3 |
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Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia |
ORPHA:231183 |
Peho Syndrome |
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Undetectable visual evoked potentials |
OMIM:260565 |
Infantile Neuroaxonal Dystrophy |
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Abnormality of visual evoked potentials, Blindness |
ORPHA:35069 |
Xq12-Q13.3 Duplication Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:314389 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormality of visual evoked potentials, Reduced visual acuity |
ORPHA:309256 |
Mohr-Tranebjaerg Syndrome |
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Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Abnormal electroreti... |
OMIM:304700 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormality of visual evoked potentials, Reduced visual acuity |
ORPHA:309263 |
Usher Syndrome Type 1 |
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Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia |
ORPHA:231169 |
Retinitis Pigmentosa 50 |
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Nyctalopia, Abnormal electroretinogram, Reduced visual acuity |
OMIM:613194 |
Spinocerebellar Ataxia Type 1 |
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Abnormal flash visual evoked potentials |
ORPHA:98755 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Nyctalopia, Abnormality of pattern visual evoked potentials, Abnormal electroretinogram, Visual f... |
ORPHA:166035 |
Infantile Krabbe Disease |
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Photophobia, Visual loss, Blindness, Abnormality of visual evoked potentials |
ORPHA:206436 |
Micro Syndrome |
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Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:2510 |
White-Sutton Syndrome |
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Myopia, Mild myopia, Abnormal electroretinogram, Hypermetropia, Abnormality of visual evoked pote... |
OMIM:616364 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Abnormality of visual evoked potentials |
OMIM:231550 |
Mpdu1-Cdg |
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Undetectable visual evoked potentials |
ORPHA:79323 |
Hermansky-Pudlak Syndrome |
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Myopia, Amblyopia, Photophobia, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:79430 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormality of visual evoked potentials, Reduced visual acuity |
ORPHA:309271 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Undetectable visual evoked potentials |
ORPHA:423479 |
Acute Zonal Occult Outer Retinopathy |
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Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Visua... |
ORPHA:284454 |
Metachromatic Leukodystrophy |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:512 |
Warburg Micro Syndrome 2 |
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Undetectable visual evoked potentials |
OMIM:614225 |
Retinitis Pigmentosa 45 |
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Nyctalopia, Abnormal electroretinogram, Peripheral visual field loss |
OMIM:613767 |
Mogs-Cdg |
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Abnormality of visual evoked potentials |
ORPHA:79330 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Abnormality of pattern visual evoked potentials, Visual impairment |
ORPHA:2822 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment |
OMIM:203700 |
Osteopetrosis, Autosomal Recessive 5 |
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Undetectable visual evoked potentials, Severely reduced visual acuity, Visual impairment |
OMIM:259720 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials |
ORPHA:258 |
Retinitis Pigmentosa 43 |
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Nyctalopia, Abnormal electroretinogram, Peripheral visual field loss, Visual impairment |
OMIM:613810 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:667 |
Cerebrotendinous Xanthomatosis |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:909 |
Cockayne Syndrome B |
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Abnormality of visual evoked potentials, Hypermetropia |
OMIM:133540 |
Cockayne Syndrome A |
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Abnormality of visual evoked potentials, Hypermetropia |
OMIM:216400 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Undetectable visual evoked potentials, Blindness |
OMIM:252010 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Myopia, Enlarged flash visual evoked potentials, Decreased light- and dark-adapted electroretinog... |
OMIM:253280 |
Night Blindness, Congenital Stationary, Type 1A |
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Hemeralopia, Congenital stationary night blindness, High myopia |
OMIM:310500 |