Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Choroidal Dystrophy, Central Areolar, 1 |
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Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
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Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 7 |
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Macular degeneration |
OMIM:610149 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 36 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Leber Congenital Amaurosis 13 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Grouped Pigmentation Of The Retina |
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Abnormality of retinal pigmentation |
OMIM:233800 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Stargardt Disease |
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Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Macular Degeneration, Age-Related, 1 |
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Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
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Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Coloboma Of Macula |
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Macular coloboma |
OMIM:120300 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
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Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Optic Atrophy 5 |
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Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
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Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Optic Atrophy 8 |
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Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Canavan Disease |
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Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Oculocutaneous Albinism Type 1 |
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Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Ataxia With Vitamin E Deficiency |
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Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Abnormality of visual evoked potentials, Optic disc pallor, Decreased motor nerve conduction velo... |
OMIM:601152 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
OMIM:256600 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
Oculocutaneous Albinism Type 1A |
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Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Mepan Syndrome |
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Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:1389 |
Mohr-Tranebjaerg Syndrome |
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Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... |
ORPHA:52368 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduction velocity, ... |
ORPHA:485421 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:1933 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials |
OMIM:609304 |
Xq12-Q13.3 Duplication Syndrome |
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Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
Micro Syndrome |
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Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... |
ORPHA:2510 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... |
OMIM:601455 |
Pelizaeus-Merzbacher Disease |
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Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
Infantile Neuroaxonal Dystrophy |
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Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:35069 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Friedreich Ataxia |
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Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:229300 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:480898 |
Late-Infantile/Juvenile Krabbe Disease |
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Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... |
ORPHA:206443 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
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Abnormality of visual evoked potentials |
OMIM:614457 |
White-Sutton Syndrome |
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Abnormality of visual evoked potentials, Patent ductus arteriosus, Rod-cone dystrophy, Optic nerv... |
OMIM:616364 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309263 |
Cln5 Disease |
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Abnormality of visual evoked potentials |
ORPHA:228360 |
Leber Congenital Amaurosis |
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Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Ruvalcaba Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:3121 |
Retinitis Pigmentosa |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Orth... |
ORPHA:309271 |
Mogs-Cdg |
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Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy |
ORPHA:79330 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... |
ORPHA:909 |
Cockayne Syndrome A |
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Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... |
OMIM:216400 |
Hermansky-Pudlak Syndrome |
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Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism |
ORPHA:79430 |
Cockayne Syndrome B |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Pigmenta... |
OMIM:133540 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |
Metachromatic Leukodystrophy |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:512 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of visual evoked potentials, Optic nerve compression |
ORPHA:667 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Abnormality of visual evoked potentials |
OMIM:203700 |