Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Neovascular Glaucoma |
|
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Ocular hypertension, C... |
ORPHA:94058 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Hypertrigl... |
OMIM:610947 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:603649 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Irvan Syndrome |
|
Ocular hypertension, Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractio... |
ORPHA:209943 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... |
OMIM:180080 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Microphthalmia, Isolated 6 |
|
Microcornea, Retinal fold, Ocular hypertension |
OMIM:613517 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular flecks, Macular atrophy |
OMIM:600110 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Ocular hypertension, Microcornea, Macular atrophy |
OMIM:602499 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
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 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Glaucoma 1, Open Angle, F |
|
Ocular hypertension, Increased cup-to-disc ratio |
OMIM:603383 |
Morm Syndrome |
|
Truncal obesity, Cataract, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Asymmetry of intraocular pressure, Mydriasis, Cataract, Phakodonesi... |
OMIM:177650 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Obesity, ... |
OMIM:616188 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Ocular hypertension |
OMIM:617272 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... |
ORPHA:90050 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis, Ocular hypertension |
OMIM:613195 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... |
OMIM:615990 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration, Small for gestational age |
OMIM:275400 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Peripheral retinal atrophy, Microcornea, Retinal dystrophy, Iris coloboma |
OMIM:615147 |
Late-Onset Retinal Degeneration |
|
Macular degeneration, Ocular hypertension, Patchy atrophy of the retinal pigment epithelium, Chor... |
ORPHA:67042 |
Uveal Melanoma |
|
Inferior lens subluxation, Vitreous hemorrhage, Iris melanoma, Zonular cataract, Ocular hypertens... |
ORPHA:39044 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyo... |
OMIM:204200 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Bardet-Biedl Syndrome 16 |
|
Obesity, Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Idiopathic Panuveitis |
|
Red eye, Cystoid macular edema, Ocular hypertension, Epiretinal membrane, Vitreous floaters, Chor... |
ORPHA:280921 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... |
OMIM:608161 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia |
OMIM:617173 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Hypertriglyceridemia, Myocardial infarction, Hypercholesterolemia, Ins... |
OMIM:615703 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Aortic valve stenosis, Ocular hypertension, Pulmonic stenosis, Ectopia lentis |
OMIM:614819 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... |
OMIM:617406 |
Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... |
OMIM:604393 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy |
OMIM:250450 |
Juvenile Glaucoma |
|
Optic neuropathy, Increased cup-to-disc ratio, Ocular hypertension, Temporal optic disc pallor, R... |
ORPHA:98977 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... |
OMIM:212550 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Glaucoma, Primary Closed-Angle |
|
Ocular hypertension, Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Idiopathic Anterior Uveitis |
|
Red eye, Nuclear cataract, Ocular hypertension, Increased cup-to-disc ratio, Macular edema, Poste... |
ORPHA:280914 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Truncal obesity, ... |
OMIM:615986 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... |
OMIM:193230 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract, Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy |
OMIM:617304 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Macular edema, Retinal ne... |
ORPHA:247691 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration, Marginal corneal dystrophy |
OMIM:210370 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration |
OMIM:256730 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... |
OMIM:180105 |
Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension |
OMIM:156600 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... |
OMIM:613750 |
Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal macular morphology, Retinal detachment, Cataract, ... |
ORPHA:190 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... |
OMIM:613581 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:602271 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Ocular hypertension, Ectopia pupillae, Co... |
ORPHA:98973 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration |
OMIM:225755 |
Mucolipidosis Iv |
|
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration |
OMIM:252650 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Iris coloboma, Ocular hypertension |
OMIM:610023 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Sjogren-Larsson Syndrome |
|
Macular degeneration, Opacification of the corneal epithelium, Retinal thinning, Retinal pigment ... |
OMIM:270200 |
Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Ocular hypertension, Retinal coloboma, Morning glory anomaly, Ch... |
OMIM:612109 |
Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Sclerocornea, Ocular hypertension |
OMIM:269400 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration |
OMIM:520000 |
Phacoanaphylactic Uveitis |
|
Red eye, Keratitis, Pseudophakia, Abnormal pupil morphology, Cystoid macular edema, Ocular hypert... |
ORPHA:209959 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Scheie Syndrome |
|
Corneal opacity, Aortic regurgitation, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
Oguchi Disease |
|
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy |
ORPHA:75382 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract, Retinal atrophy |
OMIM:616722 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate |
OMIM:264420 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Retinal Cone Dystrophy 3B |
|
Astigmatism, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance |
OMIM:145750 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity, Retinal degeneration, Macular degeneration |
OMIM:604360 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Ocular hypertension |
OMIM:107250 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Ocular hypertension, Microcornea, Cataract, Posterior synech... |
OMIM:610256 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:300438 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... |
OMIM:619260 |
Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy, Arrhythmia, Cataract, Cardiomyopathy, Congestive heart ... |
OMIM:266500 |
Alg6-Cdg |
|
Failure to thrive, Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation, Corneal erosion, Macular degeneration |
ORPHA:816 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... |
OMIM:615994 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal degeneration, Arrhythmia, Cone/cone-rod dystrophy, Optic atrophy, Cardiomyopathy |
OMIM:249270 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610283 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
Hyperostosis Cranialis Interna |
|
Optic atrophy, Ocular hypertension |
OMIM:144755 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Keratoconus, Pr... |
ORPHA:542306 |
Congenital Microcoria |
|
Hypoplastic iris stroma, Nuclear cataract, Ocular hypertension, Corneal stromal edema, Megalocorn... |
ORPHA:566 |
Senior-Loken Syndrome 9 |
|
Obesity, Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy |
OMIM:617460 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
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Corneal opacity, Ocular hypertension, Cataract, Hypertension, Obesity, Aniridia |
OMIM:612469 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Optic disc pallor, Tachycardia, Retinal degeneration |
ORPHA:79264 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Intermittent claudication, Mitral stenosis, Retinal peau d'orange, Macular degen... |
OMIM:264800 |
Mucolipidosis Iii Alpha/Beta |
|
Retinal degeneration, Retinopathy, Opacification of the corneal stroma, Hyperopic astigmatism, Ao... |
OMIM:252600 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... |
OMIM:120970 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Failure to thrive, Retinal degeneration |
ORPHA:442835 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Hypertension |
OMIM:615812 |
Dural Sinus Malformation |
|
Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Papilledema, Ocular hypertension... |
ORPHA:97339 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Retinal degeneration |
OMIM:615630 |
Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels... |
OMIM:209900 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Cataract, Macular degeneration |
ORPHA:284289 |
Glaucoma 3, Primary Congenital, A |
|
Ocular hypertension |
OMIM:231300 |
Zika Virus Disease |
|
Absent foveal reflex, Lens subluxation, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Rod-cone dystrophy |
ORPHA:391428 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration |
OMIM:270700 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Failure to thrive, Retinal degeneration, Retinopathy, Angioid streaks of the fundus, Macular scar |
OMIM:239000 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Abnormality of macular pigmentation, Macular degeneration |
ORPHA:1573 |
Axial Spondylometaphyseal Dysplasia |
|
Rod-cone dystrophy, Peripheral retinal degeneration, Retinal dystrophy, Optic atrophy, Cataract |
ORPHA:168549 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Juvenile cataract, Rod-cone dystrophy |
ORPHA:436245 |
Birdshot Chorioretinopathy |
|
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy |
OMIM:605808 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... |
OMIM:616959 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Retinal degeneration |
OMIM:615249 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:613819 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Choroidal neovascularization, Macular degeneration |
ORPHA:404451 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Macular degeneration |
OMIM:619780 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Retinal... |
ORPHA:85167 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Astigmatism |
ORPHA:168491 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... |
ORPHA:2457 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Spherophakia, Ocular hypertension, Spontaneous conjunctival filtering bleb, Cataract, Anterior sy... |
OMIM:601552 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... |
ORPHA:552 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Red eye, Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Ocular ... |
ORPHA:91500 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Astigmatism, Retinal detachment, Ocular hypertension |
ORPHA:2953 |
Cone-Rod Dystrophy 6 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... |
OMIM:601777 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... |
ORPHA:71212 |
Papillorenal Syndrome |
|
Macular degeneration, Lens luxation, Retinal coloboma, Morning glory anomaly, Chorioretinal atrop... |
OMIM:120330 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Hypoketotic hypoglycemia, Tachycardia, Arrhythmia, Overweight, Dilated... |
ORPHA:26793 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Retinal degeneration |
OMIM:272200 |
Joubert Syndrome 6 |
|
Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Retinal degeneration, Rod-cone dystrophy, Heart murmur |
ORPHA:166035 |
Kniest Dysplasia |
|
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lens luxation, Lattice retinal... |
ORPHA:485 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free f... |
OMIM:610768 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration, Congestive heart... |
ORPHA:48818 |
Hurler Syndrome |
|
Corneal opacity, Retinal degeneration, Mitral regurgitation, Opacification of the corneal stroma,... |
OMIM:607014 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Retinal degeneration, Subdural hemorrhage, Abnormality of macular pigmentation... |
ORPHA:79282 |
Cockayne Syndrome Type 3 |
|
Corneal ulceration, Retinal degeneration, Subdural hemorrhage, Retinal hemorrhage, Retinal dystro... |
ORPHA:90324 |
Cockayne Syndrome |
|
Corneal ulceration, Abnormal cornea morphology, Abnormality of retinal pigmentation, Band keratop... |
ORPHA:191 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... |
ORPHA:157850 |
Werner Syndrome |
|
Cataract, Retinal degeneration |
OMIM:277700 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Cerebral hemorrhage, Macular degeneration, Retinal hemorrhage, Angioid streaks o... |
OMIM:177850 |
Trichothiodystrophy |
|
Retinal degeneration, Macular degeneration, Microcornea, Astigmatism, Developmental cataract, Ker... |
ORPHA:33364 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Obesity, Orthostatic hypotension, Overweight, Retinal degeneration |
ORPHA:2822 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion |
OMIM:250410 |
Autosomal Dominant Cerebellar Ataxia |
|
Pigmentary retinopathy, Retinal degeneration, Macular degeneration |
ORPHA:99 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy |
ORPHA:412057 |
Knobloch Syndrome |
|
Macular degeneration, Retinal detachment, Vitreoretinopathy, Cataract, Abnormal vitreous humor mo... |
ORPHA:1571 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Corneal opacity, Optic nerve hypoplasia, Retinal detachment, Megalocornea, Optic atrophy, Catarac... |
OMIM:236670 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Retinal degeneration, Megalocornea, Opacification of the corneal stroma... |
OMIM:253280 |
Farber Disease |
|
Failure to thrive, Corneal opacity, Cherry red spot of the macula, Macular degeneration, Opacific... |
ORPHA:333 |
Mucopolysaccharidosis Type 3 |
|
Corneal opacity, Retinal degeneration, Rod-cone dystrophy, Opacification of the corneal stroma, P... |
ORPHA:581 |
Nail-Patella Syndrome |
|
Antecubital pterygium, Abnormal iris pigmentation, Lester's sign, Ocular hypertension |
ORPHA:2614 |
Mannosidosis, Alpha B, Lysosomal |
|
Retinal degeneration |
OMIM:248500 |
Spinocerebellar Ataxia Type 7 |
|
Failure to thrive, Macular degeneration, Cone/cone-rod dystrophy, Abnormal fundus morphology, Con... |
ORPHA:94147 |
Mucopolysaccharidosis Type 2 |
|
Corneal opacity, Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinal degener... |
ORPHA:580 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
Alport Syndrome |
|
Macular degeneration, Recurrent corneal erosions, Posterior subcapsular cataract, Retinal flecks,... |
ORPHA:63 |
Senior-Loken Syndrome 8 |
|
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616307 |
Cockayne Syndrome A |
|
Failure to thrive, Retinal pigment epithelial mottling, Arrhythmia, Pigmentary retinopathy, Opaci... |
OMIM:216400 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Ocular hypertension |
ORPHA:93315 |
Cancer-Associated Retinopathy |
|
Granular macular appearance, Retinal pigment epithelial atrophy, Optic atrophy, Optic disc pallor... |
ORPHA:71505 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Keratoconjunctivitis sicca, Retinal degeneration |
OMIM:618479 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Failure to thrive, Abnormality of retinal pigmentation, Aortic valve ... |
ORPHA:79474 |
Non-Specific Syndromic Intellectual Disability |
|
Papilledema, Decreased body weight, Retinal atrophy, Astigmatism |
ORPHA:528084 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Retinal degeneration |
OMIM:208500 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Optic atrophy, Abnormal retinal morphology, Retinal atrophy, Pulmonary arteria... |
ORPHA:2785 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Retinal atrophy, Severe failure to thrive, Bradycardia |
ORPHA:97297 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Failure to thrive, Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels... |
OMIM:266920 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Retinal degeneration, Pigmentary retinopathy |
OMIM:234200 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration |
ORPHA:247234 |
Say-Barber-Miller Syndrome |
|
Optic atrophy, Rod-cone dystrophy, Macular degeneration |
ORPHA:3132 |
Alström Syndrome |
|
Abnormal coronary artery physiology, Posterior subcapsular cataract, Cone/cone-rod dystrophy, Ret... |
ORPHA:64 |