Occult Macular Dystrophy |
|
Abnormal multifocal electroretinogram |
OMIM:613587 |
Usher Syndrome, Type I |
|
Abnormal electroretinogram, Undetectable electroretinogram |
OMIM:276900 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Abnormal electroretinogram |
OMIM:165510 |
X-Linked Retinoschisis |
|
Abnormal electroretinogram |
ORPHA:792 |
Optic Atrophy 5 |
|
Abnormality of pattern visual evoked potentials |
OMIM:610708 |
Oligocone Trichromacy |
|
Abnormal electroretinogram |
ORPHA:75378 |
Macular Dystrophy, Vitelliform, 2 |
|
Abnormal electroretinogram |
OMIM:153700 |
Sorsby Fundus Dystrophy |
|
Abnormal electroretinogram |
OMIM:136900 |
Retinitis Pigmentosa 31 |
|
Abnormal electroretinogram |
OMIM:609923 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials |
OMIM:616648 |
Retinitis Pigmentosa 39 |
|
Abnormal electroretinogram |
OMIM:613809 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
ORPHA:1933 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Abnormality of pattern visual evoked potentials |
ORPHA:357225 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
ORPHA:2971 |
Canavan Disease |
|
Abnormality of visual evoked potentials |
ORPHA:141 |
Stargardt Disease |
|
Abnormality of visual evoked potentials |
ORPHA:827 |
Optic Atrophy 1 |
|
Abnormal amplitude of pattern reversal visual evoked potentials |
OMIM:165500 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Abnormality of pattern visual evoked potentials, Undetectable electroretinogram |
ORPHA:1947 |
Bothnia Retinal Dystrophy |
|
Abnormal electroretinogram |
OMIM:607475 |
Progressive Cone Dystrophy |
|
Abnormal electroretinogram |
ORPHA:1871 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1215 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials |
OMIM:617523 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials |
ORPHA:352731 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials |
ORPHA:96 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
OMIM:616875 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
ORPHA:3121 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
OMIM:125310 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials |
OMIM:256600 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormal electrooculogram |
OMIM:179840 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormal electroretinogram |
ORPHA:1574 |
Blue Cone Monochromatism |
|
Abnormal electroretinogram |
ORPHA:16 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials |
ORPHA:436245 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:508093 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials |
OMIM:245200 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials |
ORPHA:168491 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials |
ORPHA:163961 |
Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials |
OMIM:601152 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Undetectable visual evoked potentials |
OMIM:601338 |
Retinal Cone Dystrophy 1 |
|
Abnormal electroretinogram |
OMIM:180020 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:314389 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormal electroretinogram |
ORPHA:2246 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:52368 |
Peho Syndrome |
|
Undetectable visual evoked potentials |
OMIM:260565 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials |
OMIM:618195 |
Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials |
ORPHA:206443 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials |
ORPHA:98755 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials |
ORPHA:702 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:35069 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Undetectable visual evoked potentials |
OMIM:619051 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal amplitude of pattern reversal visual evoked potentials |
OMIM:125250 |
Retinitis Pigmentosa 54 |
|
Abnormal electroretinogram |
OMIM:613428 |
Night Blindness, Congenital Stationary, Type 1C |
|
Abnormal electroretinogram |
OMIM:613216 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:480898 |
White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
OMIM:616364 |
Choroideremia |
|
Abnormal electroretinogram |
ORPHA:180 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials |
ORPHA:485421 |
Infantile Krabbe Disease |
|
Abnormality of visual evoked potentials |
ORPHA:206436 |
Micro Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:2510 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of visual evoked potentials |
ORPHA:79431 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Abnormal electroretinogram |
OMIM:617173 |
Friedreich Ataxia |
|
Abnormality of visual evoked potentials |
OMIM:229300 |
Joubert Syndrome 25 |
|
Abnormal electroretinogram |
OMIM:616781 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of pattern visual evoked potentials, Abnormal electroretinogram |
ORPHA:166035 |
Ã…land Islands Eye Disease |
|
Abnormal electroretinogram |
ORPHA:178333 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials |
OMIM:231550 |
Mpdu1-Cdg |
|
Undetectable visual evoked potentials |
ORPHA:79323 |
Retinitis Pigmentosa 7 |
|
Abnormal electroretinogram |
OMIM:608133 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormality of visual evoked potentials |
ORPHA:309263 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Undetectable visual evoked potentials |
ORPHA:423479 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Abnormal electroretinogram |
ORPHA:1369 |
Mogs-Cdg |
|
Abnormality of visual evoked potentials |
ORPHA:79330 |
Retinitis Pigmentosa 50 |
|
Abnormal electroretinogram |
OMIM:613194 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormal electroretinogram |
ORPHA:2743 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormality of visual evoked potentials |
ORPHA:309271 |
Retinitis Pigmentosa 4 |
|
Abnormal electroretinogram |
OMIM:613731 |
Warburg Micro Syndrome 2 |
|
Undetectable visual evoked potentials |
OMIM:614225 |
Retinitis Pigmentosa 19 |
|
Abnormal electroretinogram |
OMIM:601718 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:258 |
Hermansky-Pudlak Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:79430 |
Usher Syndrome Type 3 |
|
Abnormal electroretinogram |
ORPHA:231183 |
Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:512 |
Van Den Bosch Syndrome |
|
Abnormal electroretinogram |
ORPHA:3417 |
Usher Syndrome Type 1 |
|
Abnormal electroretinogram |
ORPHA:231169 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormality of pattern visual evoked potentials |
ORPHA:2822 |
Osteopetrosis, Autosomal Recessive 5 |
|
Undetectable visual evoked potentials |
OMIM:259720 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of visual evoked potentials |
ORPHA:909 |
Cockayne Syndrome B |
|
Abnormality of visual evoked potentials |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormality of visual evoked potentials |
OMIM:216400 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials |
OMIM:203700 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Abnormal electroretinogram |
ORPHA:1154 |
Leber Congenital Amaurosis |
|
Abnormal electroretinogram |
ORPHA:65 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal electroretinogram |
ORPHA:1390 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal electroretinogram |
OMIM:304700 |
Retinitis Pigmentosa 45 |
|
Abnormal electroretinogram |
OMIM:613767 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials |
ORPHA:667 |
Retinitis Pigmentosa |
|
Abnormal electroretinogram |
ORPHA:791 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Undetectable visual evoked potentials |
OMIM:252010 |
Developmental And Epileptic Encephalopathy 28 |
|
Abnormal electroretinogram |
OMIM:616211 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Abnormal electroretinogram |
OMIM:193235 |
Arthrogryposis, Distal, Type 5 |
|
Abnormal electroretinogram |
OMIM:108145 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormal electroretinogram |
ORPHA:1173 |
Joubert Syndrome 3 |
|
Abnormal electroretinogram |
OMIM:608629 |
Retinitis Pigmentosa 43 |
|
Abnormal electroretinogram |
OMIM:613810 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormal electroretinogram |
ORPHA:5 |
Mucolipidosis Type Iv |
|
Abnormal electroretinogram |
ORPHA:578 |
Usher Syndrome Type 2 |
|
Abnormal electroretinogram |
ORPHA:231178 |
Cone-Rod Dystrophy 2 |
|
Abnormal electroretinogram |
OMIM:120970 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Abnormal electroretinogram |
ORPHA:96181 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Enlarged flash visual evoked potentials, Decreased light- and dark-adapted electroretinogram ampl... |
OMIM:253280 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Abnormal electroretinogram |
ORPHA:542306 |
Machado-Joseph Disease |
|
Abnormal electrooculogram |
OMIM:109150 |
Bardet-Biedl Syndrome |
|
Abnormal electroretinogram |
ORPHA:110 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Abnormal electroretinogram |
OMIM:614195 |
Usher Syndrome |
|
Abnormal electroretinogram |
ORPHA:886 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Abnormal electroretinogram |
OMIM:214100 |
Congenital Fibrosis Of Extraocular Muscles |
|
Abnormal electroretinogram |
ORPHA:45358 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal electroretinogram |
ORPHA:284454 |
Cockayne Syndrome |
|
Abnormal electroretinogram |
ORPHA:191 |
Degcags Syndrome |
|
Abnormal electroretinogram |
OMIM:619488 |
Neurofibromatosis Type 1 |
|
Abnormal electroretinogram |
ORPHA:636 |