Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Stargardt Disease 1 |
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Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Choroidal Dystrophy, Central Areolar, 1 |
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Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Stargardt Disease |
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Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Macular Degeneration, Age-Related, 13 |
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Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Retinitis Pigmentosa 36 |
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Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
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 |
Exudative Vitreoretinopathy 7 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
X-Linked Retinal Dysplasia |
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Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Late-Onset Retinal Degeneration |
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Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Grouped Pigmentation Of The Retina |
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Abnormality of retinal pigmentation |
OMIM:233800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Retinal dysplasia |
OMIM:615041 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... |
OMIM:618195 |
Cleft Lip-Retinopathy Syndrome |
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Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Leber Congenital Amaurosis 19 |
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Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Central Retinal Vein Occlusion |
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Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity |
OMIM:300271 |
Exudative Vitreoretinopathy 2, X-Linked |
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Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Choroideremia |
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Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... |
OMIM:303100 |
Macular Degeneration, Age-Related, 1 |
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Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Familial Drusen |
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Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Vitreoretinopathy, Neovascular Inflammatory |
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Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Exudative Vitreoretinopathy 1 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Birdshot Chorioretinopathy |
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Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Canavan Disease |
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Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Chorioretinal Atrophy, Progressive Bifocal |
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Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Retinitis Pigmentosa 70 |
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Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Reese Retinal Dysplasia |
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Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Retinitis Pigmentosa 32 |
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Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Exudative Vitreoretinopathy 6 |
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Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... |
OMIM:616468 |
Intellectual Developmental Disorder, X-Linked 101 |
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Hyperactivity, Optic atrophy |
OMIM:300928 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
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Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Retinitis Pigmentosa 13 |
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Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Morm Syndrome |
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Retinal dystrophy, Hyperactivity, Retinal atrophy |
ORPHA:75858 |
Retinal Dystrophy And Obesity |
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Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Irvan Syndrome |
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Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Optic Atrophy 8 |
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Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:616648 |
Smith-Magenis syndrome |
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Hyperactivity |
DECIPHER:8 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Temporal optic disc pallor, Abnormality of visual evoked potentials, Abnormal retinal nerve fiber... |
ORPHA:1215 |
Eales Disease |
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Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
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Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Oculocutaneous Albinism Type 1 |
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Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... |
ORPHA:352731 |
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 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Cone Rod Dystrophy |
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Abnormality of retinal pigmentation |
ORPHA:1872 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Ataxia With Vitamin E Deficiency |
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Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Developmental And Epileptic Encephalopathy 43 |
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Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Rod-cone dystrophy, Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment ... |
ORPHA:436245 |
Retinal Cone Dystrophy 4 |
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Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Myopia 28, Autosomal Recessive |
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Retinal detachment |
OMIM:619781 |
Hartnup Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Vitreoretinochoroidopathy |
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Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... |
OMIM:193220 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
Congenital Stationary Night Blindness |
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Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Oculocutaneous Albinism Type 1A |
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Abnormal optic nerve morphology, Hypoplasia of the fovea, Abnormality of visual evoked potentials... |
ORPHA:79431 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Optic disc pallor, Abnormality of visual evoked potentials, Optic atrophy |
OMIM:601152 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials |
OMIM:609304 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Krabbe Disease |
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Optic atrophy, Abnormal flash visual evoked potentials |
OMIM:245200 |
Mepan Syndrome |
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Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity |
OMIM:301076 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:1389 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Undetectable visual evoked potentials, Retinal dystrophy, Optic disc pallor, Macular coloboma, Ap... |
ORPHA:423479 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Abnormality of visual evoked potentials, Optic atrophy |
OMIM:256600 |
Pelizaeus-Merzbacher Disease |
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Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
Peho Syndrome |
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Undetectable visual evoked potentials, Optic atrophy |
OMIM:260565 |
Micro Syndrome |
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Abnormality of visual evoked potentials, Retinal coloboma, Optic atrophy, Abnormality of retinal ... |
ORPHA:2510 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Optic disc pallor, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:485421 |
Xq12-Q13.3 Duplication Syndrome |
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Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Retinal degeneration, Abnormality of visual evoked potentials, Abnormal amplitude of flash visual... |
ORPHA:168491 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormality of visual evoked potentials |
ORPHA:320401 |
Coats Disease |
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Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:52368 |
Friedreich Ataxia |
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Abnormality of visual evoked potentials, Optic atrophy |
OMIM:229300 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:480898 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:231550 |
Mpdu1-Cdg |
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Undetectable visual evoked potentials, Optic atrophy |
ORPHA:79323 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:35069 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309263 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials |
ORPHA:1933 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Infantile Krabbe Disease |
|
Abnormality of visual evoked potentials, Cherry red spot of the macula, Optic atrophy |
ORPHA:206436 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309271 |
Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
White-Sutton Syndrome |
|
Rod-cone dystrophy, Abnormality of visual evoked potentials, Optic nerve hypoplasia |
OMIM:616364 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Mogs-Cdg |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:79330 |
Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials |
ORPHA:206443 |
Hermansky-Pudlak Syndrome |
|
Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Ocular albinism |
ORPHA:79430 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... |
ORPHA:247691 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Cockayne Syndrome A |
|
Optic atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Abnormality of visual evoked... |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Hypermyelinated retinal nerve fibers, Optic neuropathy, Optic disc pallor, Abnorma... |
ORPHA:909 |
Cockayne Syndrome B |
|
Abnormality of visual evoked potentials, Pigmentary retinopathy, Optic atrophy |
OMIM:133540 |
Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Abnormality of visual evoked potentials |
ORPHA:667 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:258 |
Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:512 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials |
OMIM:203700 |