Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:603649 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular flecks, Macular atrophy |
OMIM:600110 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... |
OMIM:204500 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:614322 |
Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... |
OMIM:608161 |
Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:616211 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Cerebral atrophy, Increased extra... |
OMIM:204200 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... |
OMIM:613750 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... |
ORPHA:100070 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... |
OMIM:256730 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate |
OMIM:264420 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy |
OMIM:615147 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy |
OMIM:617304 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration |
OMIM:225755 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:275400 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Cerebellar atrophy |
OMIM:256731 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Familial Infantile Bilateral Striatal Necrosis |
|
Optic atrophy, Basal ganglia gliosis, Astrocytosis, Atrophy/Degeneration involving the caudate nu... |
ORPHA:225154 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:602271 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis |
OMIM:600795 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Oguchi Disease |
|
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy |
ORPHA:75382 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy |
OMIM:212550 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... |
OMIM:617406 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Sporadic Creutzfeldt-Jakob Disease |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis |
ORPHA:204 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy |
OMIM:616171 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:252650 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Astrocytosis |
ORPHA:275864 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy |
OMIM:617460 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Cerebral cortical atrophy, Retinal degeneration |
OMIM:300438 |
Birdshot Chorioretinopathy |
|
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy |
OMIM:605808 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Retinal atrophy, I... |
OMIM:610127 |
Inherited Creutzfeldt-Jakob Disease |
|
Senile plaques, Neuronal loss in central nervous system, Central nervous system degeneration, Abn... |
ORPHA:282166 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610283 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Cerebral cortical atrophy, Retinal degeneration... |
OMIM:604360 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Sjogren-Larsson Syndrome |
|
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... |
OMIM:270200 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis |
OMIM:172500 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... |
OMIM:615986 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Retinal degeneration, Brain atrophy, Cerebral atrophy, Attenuation of retinal blood vessels, Geog... |
OMIM:619260 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy |
OMIM:602499 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation, Macular degeneration |
ORPHA:816 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:249270 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... |
OMIM:120970 |
Late-Onset Retinal Degeneration |
|
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Fu... |
ORPHA:67042 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Alg6-Cdg |
|
Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration |
ORPHA:404451 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... |
ORPHA:79264 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... |
OMIM:615994 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy |
OMIM:616722 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Abnormality of macular pigmentation, Macular degeneration |
ORPHA:1573 |
Macular Dystrophy, Vitelliform, 5 |
|
Macular dystrophy, Vitelliform-like macular lesions |
OMIM:616152 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:613819 |
Hsd10 Disease, Infantile Type |
|
Retinal degeneration, Rod-cone dystrophy, Cerebral atrophy, Neurodegeneration, Optic atrophy, Dif... |
ORPHA:391428 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration |
OMIM:270700 |
Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Neuronal loss in central nervous system, Gliosis, Astrocytosis, Cerebellar atrophy, Cerebral cort... |
OMIM:203700 |
Canavan Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:141 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... |
OMIM:616959 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Brain atrophy, Cerebral atrophy, Retinal degeneration |
ORPHA:442835 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Cockayne Syndrome Type 3 |
|
Retinal degeneration, Brain atrophy, Retinal hemorrhage, Retinal dystrophy, Astrocytosis, Optic d... |
ORPHA:90324 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:615630 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Macular degeneration |
ORPHA:284289 |
Cone-Rod Dystrophy 6 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... |
OMIM:601777 |
Joubert Syndrome 6 |
|
Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Macular degeneration |
OMIM:619780 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy |
ORPHA:436245 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration |
OMIM:615249 |
Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration |
OMIM:252600 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Corpus callosum atrophy, Retinal degeneration, Cerebellar atrophy |
ORPHA:168491 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Abnormal reti... |
ORPHA:1215 |
Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy |
ORPHA:168549 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration |
OMIM:239000 |
Mannosidosis, Alpha B, Lysosomal |
|
Gliosis, Cerebral cortical atrophy, Retinal degeneration, Corpus callosum atrophy, Cerebellar atr... |
OMIM:248500 |
Supranuclear Palsy, Progressive, 1 |
|
Senile plaques, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Granulovacuol... |
OMIM:601104 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cerebral cortical atrophy, Retinal degeneration, Rod-cone dystrophy |
ORPHA:166035 |
Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... |
ORPHA:448237 |
Multiple Sulfatase Deficiency |
|
Cerebral atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:272200 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... |
ORPHA:352731 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pontocerebellar atrophy, Astrocytosis, Facial palsy |
ORPHA:258 |
Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration |
ORPHA:48818 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Parietal cortical atrophy, Corpus callosum atrophy, Retinal atrophy, Cerebellar atrophy |
ORPHA:412057 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Retinal degeneration, Rod-cone dystrophy, Pallidal degeneration, Pigmentary retinopathy, Retinal ... |
ORPHA:157850 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion |
OMIM:250410 |
Pseudoxanthoma Elasticum |
|
Retinal peau d'orange, Macular degeneration, Retinal hemorrhage, Optic disc drusen, Choroidal neo... |
OMIM:264800 |
Papillorenal Syndrome |
|
Gliosis, Macular degeneration, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Re... |
OMIM:120330 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Frontal cortical atrophy, Retinal degeneration, Orthostatic hypotensio... |
ORPHA:2822 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... |
ORPHA:85167 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
Bardet-Biedl Syndrome 1 |
|
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal dystrophy... |
OMIM:209900 |
Autosomal Dominant Cerebellar Ataxia |
|
Pigmentary retinopathy, Retinal degeneration, Macular degeneration |
ORPHA:99 |
Werner Syndrome |
|
Retinal degeneration |
OMIM:277700 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Angioid streaks of the fundus, Retinal hemorrhage, Macular degeneration |
OMIM:177850 |
Senior-Loken Syndrome 8 |
|
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616307 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Retinal degeneration, Cerebral atrophy, Abnormality of macular pigmentation, Pigmentary retinopat... |
ORPHA:79282 |
Hurler Syndrome |
|
Neurodegeneration, Retinal degeneration |
OMIM:607014 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Cerebellar corti... |
ORPHA:247234 |
Kniest Dysplasia |
|
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lattice retinal degeneration, ... |
ORPHA:485 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis |
ORPHA:309854 |
Spinocerebellar Ataxia Type 7 |
|
Cerebral atrophy, Macular degeneration, Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fun... |
ORPHA:94147 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Retinal degeneration, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Cerebral degenera... |
OMIM:234200 |
Cancer-Associated Retinopathy |
|
Granular macular appearance, Diffuse cerebellar atrophy, Retinal pigment epithelial atrophy, Opti... |
ORPHA:71505 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... |
ORPHA:79431 |
Knobloch Syndrome |
|
Vitreoretinopathy, Retinal detachment, Abnormal vitreous humor morphology, Macular degeneration |
ORPHA:1571 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Gliosis, Retinal degeneration, Retinal arteriolar constricti... |
ORPHA:191 |
Trichothiodystrophy |
|
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Retinal degeneration, Macular degeneration |
ORPHA:33364 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Retinal detachment, Optic atrophy, Retinal atrophy, Retinal dysplasia |
OMIM:236670 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration |
OMIM:618479 |
Mucopolysaccharidosis Type 3 |
|
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Central nervous ... |
ORPHA:581 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Retinal degeneration, Optic atrophy, Retinal atrophy, Retinal dysplasia |
OMIM:253280 |
Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinal degeneration, Decreased ... |
ORPHA:580 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
Farber Disease |
|
Cherry red spot of the macula, Brain atrophy, Macular degeneration |
ORPHA:333 |
Cockayne Syndrome A |
|
Decreased nerve conduction velocity, Cerebral atrophy, Retinal pigment epithelial mottling, Pigme... |
OMIM:216400 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:791 |
Gaucher Disease, Type I |
|
Macular atrophy |
OMIM:230800 |
Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Cranial nerve compression, Abnormal retinal morphology, Retinal atrophy |
ORPHA:2785 |
Alport Syndrome |
|
Macular degeneration, Retinal flecks |
ORPHA:63 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Retinal atrophy |
ORPHA:97297 |
Non-Specific Syndromic Intellectual Disability |
|
Papilledema, Frontal cortical atrophy, Retinal atrophy |
ORPHA:528084 |
Xq21 Microdeletion Syndrome |
|
Choroideremia, Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Reti... |
ORPHA:1435 |
Say-Barber-Miller Syndrome |
|
Optic atrophy, Rod-cone dystrophy, Macular degeneration |
ORPHA:3132 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:79474 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Retinal dystrophy |
OMIM:266920 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Retinal dystrophy, Optic disc pallor... |
ORPHA:64 |