Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy |
OMIM:603649 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy |
OMIM:136550 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... |
OMIM:608051 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
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 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:609923 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy |
OMIM:610381 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Stargardt Disease |
|
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... |
ORPHA:827 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... |
ORPHA:85128 |
Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... |
OMIM:143200 |
Central Areolar Choroidal Dystrophy |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... |
ORPHA:75377 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615725 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:600977 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy |
OMIM:613862 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Subretinal deposits, Macular degeneration, Choriocapillaris atrophy |
OMIM:601553 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... |
OMIM:613731 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Retinitis Pigmentosa 90 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:619007 |
Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
Cone-Rod Dystrophy 24 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... |
OMIM:620342 |
Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula... |
OMIM:608161 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Retinitis Pigmentosa 27 |
|
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... |
OMIM:613750 |
Cone-Rod Dystrophy 16 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... |
OMIM:614500 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration |
OMIM:204200 |
Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Achromatopsia |
|
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... |
ORPHA:49382 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
Bietti Crystalline Dystrophy |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... |
ORPHA:41751 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa 84 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:618220 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:617781 |
Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613660 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:616108 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:602271 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Macular degeneration, Retinal degeneration |
OMIM:256730 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:275400 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Retinitis Pigmentosa 77 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... |
OMIM:617304 |
Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Oguchi Disease |
|
Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness |
ORPHA:75382 |
Bardet-Biedl Syndrome 21 |
|
Retinal thinning, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplasia of the... |
OMIM:617406 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Retinitis Pigmentosa 10 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy |
OMIM:615147 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... |
OMIM:145350 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration |
OMIM:300438 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... |
OMIM:613581 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal dystrophy, Retinal thinning |
OMIM:615960 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... |
ORPHA:364055 |
Sjogren-Larsson Syndrome |
|
Macular degeneration, Retinal thinning, Macular dots, Retinal pigment epithelial atrophy, Macular... |
OMIM:270200 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... |
ORPHA:52427 |
Cone-Rod Dystrophy 10 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
Cone-Rod Dystrophy 8 |
|
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... |
OMIM:605549 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... |
OMIM:616468 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology |
OMIM:605808 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Abs... |
OMIM:300424 |
Nephronophthisis 9 |
|
Retinal degeneration |
OMIM:613824 |
Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:615986 |
Retinitis Pigmentosa 60 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:613983 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:604360 |
Retinal Cone Dystrophy 3B |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:610356 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ... |
OMIM:619260 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me... |
ORPHA:67042 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:249270 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... |
OMIM:120970 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... |
OMIM:616959 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Optic atrophy, Retinopathy, Macular atrophy |
OMIM:616171 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Macular degeneration, Retinopathy |
ORPHA:816 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Optic atrophy, Retinal degeneration |
OMIM:616896 |
Alg6-Cdg |
|
Rod-cone dystrophy, Retinal degeneration |
ORPHA:79320 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... |
OMIM:615994 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
Jalili Syndrome |
|
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... |
OMIM:217080 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... |
ORPHA:284454 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Abnormality of macular pigmentation, Macular degeneration |
ORPHA:1573 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... |
ORPHA:436245 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Choroidal neovascularization, Macular degeneration |
ORPHA:404451 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
Retinitis Pigmentosa 97 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:620422 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... |
ORPHA:791 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Abnormality of visual evoked potentials, Re... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
Hsd10 Disease, Infantile Type |
|
Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
ORPHA:391428 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Retinal degeneration |
ORPHA:442835 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, Retinal degeneration |
ORPHA:166035 |
Leber Congenital Amaurosis 15 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... |
OMIM:613843 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Retinal degeneration |
OMIM:615630 |
Choroidal Atrophy-Alopecia Syndrome |
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Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation |
ORPHA:1433 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Macular atrophy |
OMIM:212550 |
Joubert Syndrome 6 |
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Chorioretinal coloboma, Retinal degeneration |
OMIM:610688 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Retinal degeneration |
ORPHA:542306 |
Cone-Rod Dystrophy 6 |
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Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... |
OMIM:601777 |
Scheie Syndrome |
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Retinal degeneration |
OMIM:607016 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration |
OMIM:239000 |
Axial Spondylometaphyseal Dysplasia |
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Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy |
ORPHA:168549 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Retinal degeneration |
OMIM:615249 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Macular degeneration |
ORPHA:284289 |
Combined Oxidative Phosphorylation Deficiency 59 |
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Retinal degeneration |
OMIM:620646 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Macular degeneration |
OMIM:619780 |
Zika Virus Disease |
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Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... |
ORPHA:448237 |
Macrophthalmia, Colobomatous, With Microcornea |
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Optic disc coloboma, Chorioretinal coloboma, Macular atrophy |
OMIM:602499 |
Pseudoxanthoma Elasticum |
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Choroidal neovascularization, Macular degeneration, Angioid streaks of the fundus, Retinal peau d... |
OMIM:264800 |
Pyruvate Dehydrogenase E2 Deficiency |
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Retinal degeneration |
ORPHA:79244 |
Aceruloplasminemia |
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Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Retinal degeneration |
ORPHA:2822 |
Pantothenate Kinase-Associated Neurodegeneration |
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Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati... |
ORPHA:157850 |
Nephronophthisis 11 |
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Retinal degeneration |
OMIM:613550 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
Multiple Sulfatase Deficiency |
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Retinal degeneration |
OMIM:272200 |
Mucolipidosis Iii Alpha/Beta |
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Retinopathy, Retinal degeneration |
OMIM:252600 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... |
ORPHA:85167 |
Bardet-Biedl Syndrome 1 |
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Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ... |
OMIM:209900 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Retinal atrophy |
ORPHA:412057 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop... |
OMIM:608940 |
Werner Syndrome |
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Retinal degeneration |
OMIM:277700 |
Papillorenal Syndrome |
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Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper... |
OMIM:120330 |
Senior-Loken Syndrome 8 |
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Retinal dystrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:616307 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus |
OMIM:177850 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Retinal degeneration |
ORPHA:96179 |
Cone Rod Dystrophy |
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Abnormality of retinal pigmentation |
ORPHA:1872 |
Mannosidosis, Alpha B, Lysosomal |
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Retinal degeneration |
OMIM:248500 |
Kniest Dysplasia |
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Vitreoretinopathy, Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degener... |
ORPHA:485 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Enlarged flash vi... |
OMIM:253280 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,... |
ORPHA:79282 |
Hurler Syndrome |
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Retinal degeneration |
OMIM:607014 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... |
ORPHA:247234 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Optic atrophy, Retinal atrophy, Retinal detachment, Retinal dysplasia, Optic nerve hypoplasia |
OMIM:236670 |
Trichothiodystrophy |
|
Macular degeneration, Retinal degeneration |
ORPHA:33364 |
Cockayne Syndrome Type 3 |
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Abnormality of peripheral nerve conduction, Retinal degeneration, Retinal atrophy, Retinal hemorr... |
ORPHA:90324 |
Knobloch Syndrome |
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Abnormal vitreous humor morphology, Macular degeneration, Retinal detachment, Vitreoretinopathy |
ORPHA:1571 |
Mucopolysaccharidosis Type 3 |
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Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Retinal degeneration |
ORPHA:581 |
Cancer-Associated Retinopathy |
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Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app... |
ORPHA:71505 |
Cockayne Syndrome |
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Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Decreased nerve conductio... |
ORPHA:191 |
Mucopolysaccharidosis Type 2 |
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Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormality of retinal pigmentat... |
ORPHA:580 |
Cockayne Syndrome A |
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Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... |
OMIM:216400 |
Spinocerebellar Ataxia Type 7 |
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Macular degeneration, Abnormal fundus morphology, Cone/cone-rod dystrophy |
ORPHA:94147 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
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Retinal degeneration |
OMIM:618479 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Retinal degeneration |
OMIM:208500 |
Farber Disease |
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Macular degeneration, Cherry red spot of the macula |
ORPHA:333 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Optic atrophy, Pigmentary retinopathy, Retinal degeneration |
OMIM:234200 |
Leber Congenital Amaurosis 1 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen |
OMIM:204000 |
Gaucher Disease, Type I |
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Macular atrophy |
OMIM:230800 |
Alport Syndrome |
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Macular degeneration, Retinal flecks |
ORPHA:63 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Retinal atrophy |
ORPHA:97297 |
Xq21 Microdeletion Syndrome |
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Optic atrophy, Reticular pigmentary degeneration, Choroideremia, Chorioretinal degeneration, Abno... |
ORPHA:1435 |
Osteopetrosis With Renal Tubular Acidosis |
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Optic atrophy, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression |
ORPHA:2785 |
Say-Barber-Miller Syndrome |
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Optic atrophy, Macular degeneration, Rod-cone dystrophy |
ORPHA:3132 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Attenuation of retinal blood vessels, Rod-cone dystrophy, Macular degeneration, Retinal dystrophy |
OMIM:266920 |
Atypical Werner Syndrome |
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Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:79474 |
Stickler Syndrome |
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Lattice retinal degeneration, Abnormal vitreous humor morphology, Retinal detachment, Retinal hole |
ORPHA:828 |
Alström Syndrome |
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Cone/cone-rod dystrophy, Optic disc pallor, Drusen, Retinal pigment epithelial atrophy, Retinal d... |
ORPHA:64 |
Night Blindness, Congenital Stationary, Type1I |
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OMIM:618555 |