Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... |
OMIM:608051 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis |
ORPHA:1259 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract, Pili canaliculi, Uncombable hair |
OMIM:617251 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... |
ORPHA:1067 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
Persistent Placoid Maculopathy |
|
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... |
ORPHA:97341 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Microspherophakia-Metaphyseal Dysplasia |
|
Retinal detachment, Lens coloboma, Microspherophakia, Lens subluxation |
OMIM:157151 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... |
ORPHA:170 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract |
ORPHA:171844 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy |
OMIM:611131 |
Trichomegaly |
|
Long eyelashes, Cataract |
OMIM:190330 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... |
ORPHA:98973 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613758 |
Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Astigmatism, Pigmentary retinopathy |
OMIM:268060 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... |
OMIM:251270 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Long eyelashes, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... |
OMIM:618697 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... |
ORPHA:411527 |
Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... |
OMIM:618613 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... |
OMIM:617123 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... |
OMIM:611040 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy |
OMIM:172870 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... |
ORPHA:85128 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Retinal pigment epithelial mottling, Crystalline corneal dystrophy, Choriore... |
ORPHA:41751 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon |
OMIM:602482 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... |
OMIM:619007 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... |
OMIM:612572 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Loose Anagen Syndrome |
|
Abnormal hair whorl, Abnormal hair morphology, Iris coloboma |
ORPHA:168 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy |
OMIM:614307 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone... |
OMIM:613581 |
Uveal Melanoma |
|
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... |
ORPHA:39044 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Phakodonesis, Ectopia lentis |
OMIM:613195 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:618173 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of the optic disc, Abnormality of retinal pigmentation, Cataract |
ORPHA:65 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... |
ORPHA:49382 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentat... |
OMIM:613810 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... |
OMIM:618144 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Bornholm Eye Disease |
|
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Achondrogenesis Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Cataract, Lens subluxation |
ORPHA:93296 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Pigmentary retinopathy |
OMIM:275400 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:3156 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Wildervanck Syndrome |
|
Pseudopapilledema, Lens subluxation |
ORPHA:3456 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:602772 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... |
ORPHA:215 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Astigmatism, Scarring alopecia of scalp, Cataract, Ectopia pupillae |
OMIM:618727 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:180105 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180100 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:614819 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619389 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Pigmentary retinopathy |
OMIM:268050 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... |
ORPHA:79435 |
Tricho-Retino-Dento-Digital Syndrome |
|
Juvenile cataract, Abnormality of retinal pigmentation |
ORPHA:1264 |
Megaepiphyseal Dwarfism |
|
Inferior lens subluxation |
OMIM:249230 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Zika Virus Disease |
|
Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... |
ORPHA:448237 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Distal Monosomy 6P |
|
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... |
ORPHA:96125 |
Hyperlysinemia, Type I |
|
Ectopia lentis |
OMIM:238700 |
Papillorenal Syndrome |
|
Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc coloboma, Macular ... |
OMIM:120330 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:612095 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis |
OMIM:268100 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal arter... |
OMIM:193220 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:600132 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Corneal erosion, Generalized hyperpigmentation, Macular dege... |
ORPHA:816 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:1466 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... |
ORPHA:791 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Temtamy Syndrome |
|
Lens luxation, Chorioretinal coloboma, Ectopia lentis, Iris coloboma |
OMIM:218340 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Cone-Rod Dystrophy 3 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... |
OMIM:604116 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy |
ORPHA:1897 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration |
OMIM:613767 |
Anisocoria |
|
Anisocoria |
OMIM:106240 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Poster... |
ORPHA:364055 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Lens subluxation |
OMIM:226440 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Le... |
ORPHA:52427 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism |
ORPHA:54 |
Oculofaciocardiodental Syndrome |
|
Ectopia lentis, Iris coloboma, Retinal detachment, Cataract, Microcornea |
ORPHA:2712 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
Marfanoid Hypermobility Syndrome |
|
Ocular anterior segment dysgenesis, Ectopia lentis |
OMIM:154750 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:264470 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... |
OMIM:145350 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology |
ORPHA:3019 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1390 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Cone-Rod Dystrophy 8 |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... |
OMIM:605549 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... |
ORPHA:79432 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Macular atrophy, Abnormality of retinal pigmentation, Lens subluxation, Retinal atrophy, Retinal ... |
ORPHA:85167 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... |
ORPHA:79434 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... |
OMIM:221900 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Cataract |
ORPHA:85288 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low anterior hairline, Ectopia pupillae |
OMIM:618223 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cataract 21, Multiple Types |
|
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613617 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Retinitis Pigmentosa 51 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613464 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Bare Lymphocyte Syndrome, Type I |
|
Ectopia lentis |
OMIM:604571 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract |
OMIM:607906 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... |
OMIM:615986 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Short Syndrome |
|
Hypoplasia of the iris, Posterior embryotoxon, Alopecia, Abnormal pupil morphology, Corneal opaci... |
ORPHA:3163 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy |
OMIM:613843 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Knobloch Syndrome |
|
Ectopia lentis, Vitreoretinopathy, Macular degeneration, Retinal detachment, Abnormal vitreous hu... |
ORPHA:1571 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Sulfite Oxidase Deficiency, Isolated |
|
Ectopia lentis |
OMIM:272300 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:44 |
Triopia |
|
Abnormal pupil morphology, Microcornea, Abnormal eyebrow morphology, Iris coloboma |
ORPHA:3374 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ectopia lentis |
ORPHA:833 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Lens subluxation, Ectopia lentis |
OMIM:236200 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, White eyelashes, White forelock, Abnormal macular morphology... |
ORPHA:897 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Ectopia lentis |
ORPHA:2325 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Marshall Syndrome |
|
Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Cataract |
ORPHA:560 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract |
ORPHA:3085 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod... |
OMIM:609033 |
Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
Kniest Dysplasia |
|
Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Vitreoretinopathy, Degenerativ... |
ORPHA:485 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity, Cataract |
ORPHA:290 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Cataract, Slow-growing hair, Patchy alopeci... |
ORPHA:573 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Chorioretinal coloboma, Cataract, Iris coloboma |
OMIM:212550 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Ectopia lentis |
OMIM:245160 |
Classic Homocystinuria |
|
Optic atrophy, Abnormality of retinal pigmentation, Ectopia lentis, Retinal detachment, Cataract |
ORPHA:394 |
Arthrogryposis, Distal, Type 5 |
|
Keratoglobus, Astigmatism, Abnormality of retinal pigmentation, Keratoconus |
OMIM:108145 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... |
OMIM:175780 |
Mental Retardation, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract |
OMIM:212540 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Chorioretinal atrophy |
OMIM:616468 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract |
ORPHA:1473 |
Lipodystrophy, Familial Partial, Type 7 |
|
Developmental cataract, Pigmentary retinopathy |
OMIM:606721 |
Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... |
ORPHA:209959 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity, Retinopathy |
ORPHA:578 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:268020 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... |
OMIM:120970 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... |
ORPHA:231736 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Cataract |
ORPHA:2489 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan... |
ORPHA:2481 |
Marshall Syndrome |
|
Vitreoretinopathy, Retinal detachment, Developmental cataract, Lens luxation |
OMIM:154780 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal hair morphology, Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretin... |
ORPHA:414 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy |
ORPHA:370968 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Retinopathy, Chorioretina... |
ORPHA:5 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Wagner Vitreoretinopathy |
|
Cataract, Chorioretinal atrophy |
OMIM:143200 |
Vici Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Cataract, Abnor... |
ORPHA:1493 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy |
ORPHA:100996 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Astigmatism, Corneal dystrophy, Iris coloboma |
OMIM:253250 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Hypopigmented skin patches, Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal ... |
ORPHA:2715 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Lens luxation, Ectopia lentis |
OMIM:224400 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Ectopia lentis |
OMIM:601552 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis, Cataract |
ORPHA:1366 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Pierson Syndrome |
|
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... |
OMIM:609049 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Congenital Contractural Arachnodactyly |
|
Ectopia lentis |
ORPHA:115 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Keratoconjunctivitis sicca, Melanocytic nevus, Ectopia lentis |
OMIM:616914 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... |
OMIM:604229 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Cataract |
OMIM:616395 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Focal Dermal Hypoplasia |
|
Chorioretinal coloboma, Hypoplasia of the iris, Ectopia lentis, Abnormality of skin pigmentation,... |
ORPHA:2092 |
Proteus-Like Syndrome |
|
Heterochromia iridis, Abnormal pupil morphology, Cataract, Limbal dermoid |
ORPHA:2969 |
Weill-Marchesani Syndrome 2 |
|
Shallow anterior chamber, Ectopia lentis, Iridodonesis, Microspherophakia, Cataract, Lens luxatio... |
OMIM:608328 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Corneal opacity, Cataract |
ORPHA:585 |
Revesz Syndrome |
|
Fine hair, Nail dystrophy, Megalocornea, Sparse hair, Leukocoria |
OMIM:268130 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Ectopia lentis |
OMIM:130000 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract |
OMIM:120433 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Lens luxation, Ectopia lentis |
OMIM:252160 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Retinopathy |
ORPHA:773 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Usher Syndrome Type 3 |
|
Astigmatism, Iris hypopigmentation, Cataract |
ORPHA:231183 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Weill-Marchesani Syndrome 1 |
|
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis |
OMIM:277600 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:88628 |
Mowat-Wilson Syndrome |
|
Broad eyebrow, Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Ectopia pupillae, Su... |
OMIM:235730 |
Lowry-Wood Syndrome |
|
Astigmatism, Abnormality of retinal pigmentation |
ORPHA:1824 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract |
ORPHA:67048 |
Norrie Disease |
|
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... |
ORPHA:649 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... |
OMIM:180500 |
Marfanoid Habitus With Situs Inversus |
|
Lens subluxation |
OMIM:609008 |
Marfan Syndrome |
|
Flat cornea, Hypoplasia of the iris, Lens subluxation, Ectopia lentis, Retinal detachment, Lens l... |
ORPHA:558 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy |
OMIM:613156 |
Iris Hypoplasia With Glaucoma |
|
Iris atrophy, Hypoplasia of the iris |
OMIM:308500 |
Hypomelanosis Of Ito |
|
Alopecia, Cataract, Iris coloboma |
OMIM:300337 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Retinal degeneration, Pigmentary retinopathy |
ORPHA:79264 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Choroideremia |
OMIM:116600 |
Joubert Syndrome 3 |
|
Retinal dystrophy, Pigmentary retinopathy |
OMIM:608629 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Cataract 5, Multiple Types |
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Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Ataxia With Vitamin E Deficiency |
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Abnormality of retinal pigmentation |
ORPHA:96 |
Contractural Arachnodactyly, Congenital |
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Ectopia lentis |
OMIM:121050 |
Wolf-Hirschhorn Syndrome |
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Highly arched eyebrow, Rieger anomaly, Iris coloboma, Low posterior hairline, Ectopia pupillae |
OMIM:194190 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Fine hair, Persistent pupillary membrane, Sparse eyelashes, Cataract, Microcornea |
OMIM:257850 |
Bardet-Biedl Syndrome 17 |
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Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... |
OMIM:615994 |
Micro Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma, Cataract, Microcornea |
ORPHA:2510 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Lens luxation, Ectopia lentis |
OMIM:252150 |
Duane Retraction Syndrome |
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Patchy hypopigmentation of hair, Chorioretinal coloboma, Aniridia, Hypoplastic iris stroma, Iris ... |
ORPHA:233 |
Cataract 43 |
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Subcapsular cataract |
OMIM:616279 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Anisocoria |
ORPHA:289483 |
Hypogonadism-Cataract Syndrome |
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Cataract |
OMIM:240950 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Cataract, Pigmentary retinopathy |
ORPHA:79095 |
Norrie Disease |
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Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Ifap Syndrome 2 |
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Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Keratitis, Cataract, Sparse hair |
OMIM:619016 |
Anterior Segment Dysgenesis 1 |
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Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
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Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, Cataract, Spar... |
OMIM:612843 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
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Alopecia, Cataract |
OMIM:615704 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... |
OMIM:614866 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... |
OMIM:214110 |
Intestinal Botulism |
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Mydriasis |
ORPHA:178481 |
Xeroderma Pigmentosum, Complementation Group B |
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Freckling, Optic atrophy, Cataract, Pigmentary retinopathy |
OMIM:610651 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
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Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Toxin-Mediated Infectious Botulism |
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Mydriasis |
ORPHA:230800 |
Clouston Syndrome |
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Fine hair, Sparse eyelashes, Absent pubic hair, Brittle hair, Nail dystrophy, Alopecia, Alopecia ... |
OMIM:129500 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Mydriasis |
OMIM:619365 |
Marfan Syndrome |
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Hypoplasia of the iris, Ectopia lentis, Microspherophakia, Retinal detachment, Cataract, Astigmatism |
OMIM:154700 |
Familial Dysautonomia |
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Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion |
ORPHA:1764 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino... |
OMIM:560000 |
Alagille Syndrome |
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Abnormal pupil morphology, Corneal dystrophy, Keratoconus |
ORPHA:52 |
Vogt-Koyanagi-Harada Disease |
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Poliosis, Abnormal eyebrow morphology, Cataract, Sparse scalp hair, Abnormal eyelash morphology, ... |
ORPHA:3437 |
Galactose Mutarotase Deficiency |
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Cataract |
ORPHA:570422 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Developmental cataract, Posterior synechiae of the anterior chamber |
OMIM:616722 |
Joubert Syndrome 8 |
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Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
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Mydriasis |
ORPHA:247815 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
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Cataract |
OMIM:257790 |
Aniridia-Absent Patella Syndrome |
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Aniridia, Cataract |
ORPHA:1069 |
Schwartz-Jampel Syndrome |
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Microcornea, Cataract, Ectopia lentis |
ORPHA:800 |
Hereditary Mucoepithelial Dysplasia |
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Fine hair, Alopecia, Corneal dystrophy, Cataract, Sparse hair |
ORPHA:1839 |
Usher Syndrome |
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Astigmatism, Abnormality of retinal pigmentation, Cataract |
ORPHA:886 |
Iatrogenic Botulism |
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Mydriasis |
ORPHA:254509 |
Hereditary Bullous Dystrophy, Macular Type |
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Nail dystrophy, Alopecia, Atrichia, Corneal opacity, Cataract, Congenital abnormal hair pattern |
ORPHA:1867 |
Premature Aging Syndrome, Okamoto Type |
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Abnormal hair morphology, Cataract |
OMIM:601811 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Pigmentary retinopathy, Opacification of... |
OMIM:612582 |
Holoprosencephaly-Craniosynostosis Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:2163 |
Wound Botulism |
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Mydriasis |
ORPHA:178475 |
Stickler Syndrome |
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Ectopia lentis, Retinal detachment, Abnormal vitreous humor morphology, Cataract, Astigmatism |
ORPHA:828 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly |
OMIM:613150 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Vitiligo, Cataract, Pigmentary retinopathy, Keratoconjunctivitis, Perifoveal ring of hyperautoflu... |
OMIM:240300 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Highly arched eyebrow, Broad eyebrow, Axenfeld anomaly, Iris coloboma, Iris atrophy, Abnormal pup... |
ORPHA:261552 |
Cohen Syndrome |
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Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... |
OMIM:216550 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Achromatopsia 3 |
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Cataract |
OMIM:262300 |
Neonatal Marfan Syndrome |
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Iridodonesis, Megalocornea, Ectopia lentis |
ORPHA:284979 |
Inhalational Botulism |
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Mydriasis |
ORPHA:254504 |
Nephronophthisis 11 |
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Anisocoria |
OMIM:613550 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
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Anisocoria |
OMIM:615510 |
Wolfram Syndrome 1 |
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Optic atrophy, Pigmentary retinopathy |
OMIM:222300 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
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Fine hair, Sparse eyelashes, Hypoplastic nipples, Absent pubic hair, Distichiasis, Cataract, Opac... |
OMIM:211370 |
Isolated Succinate-Coq Reductase Deficiency |
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Pigmentary retinopathy |
ORPHA:3208 |
Oculo-Palato-Cerebral Syndrome |
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Leukocoria, Cataract |
ORPHA:2714 |
Focal Dermal Hypoplasia |
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Optic atrophy, Linear hyperpigmentation, Chorioretinal coloboma, Ectopia lentis, Aniridia, Reticu... |
OMIM:305600 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:2235 |
Charcot-Marie-Tooth Disease Type 1E |
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Abnormal pupil morphology, Anisocoria |
ORPHA:90658 |
Ectodermal Dysplasia-Blindness Syndrome |
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Keratoconjunctivitis sicca, Fine hair, Sclerocornea, Corneal dystrophy, Cataract, Microcornea, Sp... |
ORPHA:1806 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M... |
ORPHA:1969 |
Retinoblastoma |
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Retinal calcification, Abnormality of retinal pigmentation, Hypopyon, Subretinal pigment epitheli... |
ORPHA:790 |
Coffin-Lowry Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:192 |
Cataract 31, Multiple Types |
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Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Cahmr Syndrome |
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Lamellar cataract, Generalized hypertrichosis |
OMIM:211770 |
Aceruloplasminemia |
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Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration |
ORPHA:48818 |
Botulism |
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Mydriasis |
ORPHA:1267 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Anisocoria |
OMIM:231550 |
Cataracts, Spastic Paraparesis, And Speech Delay |
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Cataract |
OMIM:619338 |
Cohen Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin ... |
ORPHA:193 |
Hypoparathyroidism, Familial Isolated, 1 |
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Cataract |
OMIM:146200 |
Microphthalmia With Brain And Digit Anomalies |
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Chorioretinal coloboma, Sclerocornea, Iris coloboma, Cataract, Microcornea |
ORPHA:139471 |
Foodborne Botulism |
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Mydriasis |
ORPHA:228371 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Ectopia lentis |
OMIM:271640 |
Oculoauricular Syndrome |
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Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Microphakia, Sc... |
OMIM:612109 |
Alstrom Syndrome |
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Subcapsular cataract, Cone/cone-rod dystrophy, Pigmentary retinopathy |
OMIM:203800 |
Mucopolysaccharidosis, Type Ii |
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Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
Kearns-Sayre Syndrome |
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Pigmentary retinopathy |
OMIM:530000 |
Werner Syndrome |
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White forelock, Abnormality of retinal pigmentation, Cataract, Premature graying of hair |
ORPHA:902 |
Lowry-Wood Syndrome |
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Pigmentary retinopathy |
OMIM:226960 |
Prolidase Deficiency |
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White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
Bardet-Biedl Syndrome |
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Pigmentary retinopathy |
ORPHA:110 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Optic disc pallor, Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corne... |
OMIM:214100 |
Trisomy 18 |
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Abnormality of retinal pigmentation, Cyclopia, Iris coloboma, Cataract, Microcornea |
ORPHA:3380 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Retinal dyspl... |
ORPHA:2526 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Optic atrophy, Pigmentary retinopathy |
OMIM:220110 |
Cataract 33, Multiple Types |
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Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Aicardi Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormality of skin p... |
ORPHA:50 |
Khan-Khan-Katsanis Syndrome |
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Corneal scarring, Buphthalmos, Peters anomaly, Pigmentary retinopathy |
OMIM:618460 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Optic atrophy, Pigmentary retinopathy |
ORPHA:436271 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Sclerocornea, Pigmentary retinopathy, Cataract, Iris coloboma |
OMIM:309801 |
Cockayne Syndrome |
|