Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Choroideremia |
|
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... |
OMIM:303100 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Bardet-Biedl Syndrome 13 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:615990 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
Retinitis Pigmentosa 39 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613809 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Cataract, Corneal opacity, Pe... |
ORPHA:1067 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Woolly Hair |
|
Abnormal pupil morphology, Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woo... |
ORPHA:170 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Juvenile cataract, Uncombable hair |
OMIM:617251 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Astigmatism, Pigmentary retinopathy |
OMIM:268060 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:620102 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Leber Congenital Amaurosis 2 |
|
Attenuation of retinal blood vessels, Cataract, Keratoconus, Fundus atrophy, Optic disc pallor, P... |
OMIM:204100 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 61 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:614180 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... |
OMIM:617123 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:606068 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Retinitis Pigmentosa 17 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:600852 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Curly hair, Fine hair, Congenital posterior occipital alopecia, ... |
ORPHA:79414 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Retinitis Pigmentosa 69 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Bornholm Eye Disease |
|
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Retinal detachment, Microphakia |
ORPHA:171844 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312612 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204000 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis |
ORPHA:1259 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:3156 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Iris coloboma, Abnormal hair whorl |
ORPHA:168 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Astigmatism, Cataract, Scarring alopecia of scalp, Ectopia pupillae |
OMIM:618727 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Long eyelashes, Microcornea, Cataract, Ectopia pupillae, Sclerocornea |
OMIM:615877 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180100 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Tricho-Retino-Dento-Digital Syndrome |
|
Juvenile cataract, Abnormality of retinal pigmentation |
ORPHA:1264 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... |
OMIM:600132 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... |
OMIM:617547 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Enhanced S-Cone Syndrome |
|
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy |
OMIM:268100 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cofs Syndrome |
|
Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Posterior subcapsular cataract, Nuclear cataract, Cystoid macular degeneratio... |
OMIM:611131 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... |
OMIM:604116 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Corneal erosion, Macular degeneration, Generalized hyperpigmentation, Abnormality of... |
ORPHA:816 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:600105 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal retinal vascu... |
ORPHA:791 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti... |
OMIM:615233 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Eem Syndrome |
|
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:614307 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... |
ORPHA:52427 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613756 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Retinitis Pigmentosa 75 |
|
Mixed astigmatism, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:617023 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1390 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism |
ORPHA:54 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... |
OMIM:605549 |
Ramon Syndrome |
|
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation |
ORPHA:3019 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy |
OMIM:264470 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus, Ectopia pupillae, Low anter... |
OMIM:618223 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Retinitis Pigmentosa 3 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:300029 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
Retinitis Pigmentosa 74 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Posterior polar cataract, Optic disc pallor |
OMIM:616562 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
Abcd Syndrome |
|
Albinism, White eyelashes, White eyebrow, Polycythemia |
OMIM:600501 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
Neonatal Adrenoleukodystrophy |
|
Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Short Syndrome |
|
Abnormal pupil morphology, Alopecia, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris,... |
ORPHA:3163 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Triopia |
|
Abnormal pupil morphology, Iris coloboma, Abnormal eyebrow morphology, Microcornea |
ORPHA:3374 |
Uveal Melanoma |
|
Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation |
ORPHA:39044 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
Zika Virus Disease |
|
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... |
ORPHA:448237 |
Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Premature graying of hair, White eyelashes, White eyebrow, Abnormali... |
ORPHA:897 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... |
OMIM:300578 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis... |
ORPHA:644 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Abnormality of retinal pigmentation |
ORPHA:3085 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:609033 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental ca... |
OMIM:175780 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:290 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Arthrogryposis, Distal, Type 5 |
|
Retinal fold, Keratoglobus, Abnormality of retinal pigmentation, Astigmatism, Keratoconus |
OMIM:108145 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Cataract, Abnormal eyelash morphology, Patc... |
ORPHA:573 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Thrombocytopenia |
ORPHA:67048 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:268020 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... |
ORPHA:209959 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... |
OMIM:120970 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Iris coloboma, Corneal opacity, Chorioretinal coloboma |
ORPHA:1473 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Juvenile Paget Disease |
|
Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2801 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Chorioretinal atrophy |
OMIM:616468 |
Mucolipidosis Type Iv |
|
Retinopathy, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:578 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Thymus hyperplasia, Sp... |
ORPHA:2969 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Chorioretinal atrophy, Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pig... |
ORPHA:5 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... |
OMIM:268315 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Chorioretinal degeneration, Abn... |
ORPHA:414 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Cataract, Abnorma... |
ORPHA:2715 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy |
ORPHA:100996 |
Leigh Syndrome With Leukodystrophy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:255241 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Pigmentary retinopathy, Optic atrophy |
ORPHA:228346 |
Bardet-Biedl Syndrome 6 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:605231 |
Revesz Syndrome |
|
Megalocornea, Leukocoria, Fine hair, Aplastic anemia, Sparse hair, Nail dystrophy |
OMIM:268130 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy |
ORPHA:370968 |
Vici Syndrome |
|
Hypopigmentation of the skin, Abnormal macular morphology, Optic atrophy, Abnormality of retinal ... |
ORPHA:1493 |
Mulibrey Nanism |
|
Astigmatism, Iris coloboma, Pigmentary retinopathy, Corneal dystrophy |
OMIM:253250 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Neurocutaneous Melanocytosis |
|
Melanocytic nevus, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Chorioreti... |
ORPHA:2481 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Rieger anomaly, Iris coloboma, Accessory spleen, Low posterior hairline, Highly... |
OMIM:194190 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract, Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves... |
OMIM:613843 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis |
OMIM:237800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:585 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
ORPHA:88628 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:601777 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Nephronophthisis 11 |
|
Anisocoria, Anemia |
OMIM:613550 |
Mowat-Wilson Syndrome |
|
Broad eyebrow, Supernumerary nipple, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma... |
OMIM:235730 |
Refsum Disease |
|
Cataract, Retinopathy, Abnormality of retinal pigmentation |
ORPHA:773 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Lowry-Wood Syndrome |
|
Astigmatism, Abnormality of retinal pigmentation |
ORPHA:1824 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Poems Syndrome |
|
Hypertrichosis, Thrombocytosis, Polycythemia, Leukonychia |
ORPHA:2905 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fine hair, Microcornea, Cataract, Sparse eyelashes, Persistent pupillary membrane |
OMIM:257850 |
Duane Retraction Syndrome |
|
Abnormal pupil morphology, Patchy hypopigmentation of hair, Central heterochromia, Microcornea, H... |
ORPHA:233 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microcornea, Cataract, Retinal coloboma |
ORPHA:2510 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy |
ORPHA:79264 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Cataract |
OMIM:614105 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor |
ORPHA:216866 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy |
OMIM:613156 |
Wolfram Syndrome 1 |
|
Cataract, Pigmentary retinopathy, Optic atrophy |
OMIM:222300 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl... |
OMIM:613154 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Pigmentary retinopathy |
ORPHA:79095 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ... |
OMIM:615994 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Livedoid Vasculopathy |
|
Leukocytosis, Anemia, Polycythemia, Pancytopenia |
ORPHA:542643 |
Joubert Syndrome 3 |
|
Retinal dystrophy, Pigmentary retinopathy |
OMIM:608629 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Scarring alopecia of scalp, Cataract, Keratitis, Sparse... |
OMIM:612843 |
Alagille Syndrome |
|
Abnormal pupil morphology, Corneal dystrophy, Keratoconus |
ORPHA:52 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Pigmentary retinopathy, Optic atrophy, Cataract |
OMIM:610651 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal opacity, Heterochromia iridis, Corneal erosion |
ORPHA:1764 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Clouston Syndrome |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Brittle hair, Alopecia totalis, Fine hair, Nail dystrop... |
OMIM:129500 |
Ifap Syndrome 2 |
|
Keratoconjunctivitis sicca, Cataract, Keratitis, Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Brushfield spots, Cataract, Opacification of the corneal stroma, Pigmentar... |
OMIM:214110 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Buphthalmos, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:212550 |
Fumarase Deficiency |
|
Polycythemia |
OMIM:606812 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Peters anomaly, Opac... |
OMIM:612582 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma |
OMIM:216820 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Cataract, Abnormal eye... |
ORPHA:3437 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy |
OMIM:560000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Asplenia, Broad eyebrow, Axenfeld anomaly, Microcornea, Astigmatism, I... |
ORPHA:261552 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Fine hair, Cataract, Corneal dystrophy, Sparse hair |
ORPHA:1839 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
Usher Syndrome |
|
Astigmatism, Cataract, Abnormality of retinal pigmentation |
ORPHA:886 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, Iris hypopigmentation, Abnormality of neutrophils, Cataract, White hair, Hypochr... |
ORPHA:2720 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Cataract |
OMIM:601811 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Keratoconjunctivitis, Cataract, Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary re... |
OMIM:240300 |
Cohen Syndrome |
|
Chorioretinal dystrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Optic a... |
OMIM:216550 |
Oculo-Palato-Cerebral Syndrome |
|
Leukocoria, Cataract |
ORPHA:2714 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Classic Homocystinuria |
|
Optic atrophy, Abnormality of retinal pigmentation, Ectopia lentis, Cataract, Retinal detachment |
ORPHA:394 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Werner Syndrome |
|
White forelock, Cataract, Premature graying of hair, Abnormality of retinal pigmentation |
ORPHA:902 |
Knobloch Syndrome 1 |
|
Horizontal eyebrow, Iris transillumination defect, Developmental cataract, Lens subluxation, Alop... |
OMIM:267750 |
Pierson Syndrome |
|
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... |
OMIM:609049 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Fine hair, Microcornea, Cataract, Corneal dystrophy, Sparse hair, Scl... |
ORPHA:1806 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Pigmentary retinopathy, Optic atrophy |
OMIM:617282 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Coffin-Lowry Syndrome |
|
Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:192 |
Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Corneal arcus, Reticulocytosis, Episodic hemolytic anemia, Chronic hemoly... |
OMIM:210250 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:2235 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Thrombocytopenia, Polycythemia, Anemia |
ORPHA:88673 |
Retinoblastoma |
|
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe... |
ORPHA:790 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Breast aplasia, Developmental cataract, Fine hair, Sparse pubic hair, Iris ... |
OMIM:181270 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti... |
ORPHA:1969 |
Cohen Syndrome |
|
Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal pigmentation, Chorioretin... |
ORPHA:193 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Pigmentary retinopathy, Sclerocornea |
OMIM:614230 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Aceruloplasminemia |
|
Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation |
ORPHA:48818 |
Prolidase Deficiency |
|
White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
Ogden Syndrome |
|
Sparse eyebrow, Long eyelashes, Polycythemia, Fine hair, Iron deficiency anemia, Thrombocytopenia |
OMIM:300855 |
Alstrom Syndrome |
|
Subcapsular cataract, Pigmentary retinopathy, Cone/cone-rod dystrophy |
OMIM:203800 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Mydriasis, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Leukocytosis,... |
OMIM:259720 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Co... |
OMIM:194380 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, High anterior hairline |
OMIM:615510 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Conjunctivitis, Alopecia, Anemia, Corneal scarring, Cataract, Nail dystrophy |
OMIM:226600 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinopathy, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dyspl... |
ORPHA:2526 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Anemia, Sparse scalp hair, Lentiglobus, Fine hair, Buphthalmos, Catara... |
ORPHA:534 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Splenomegaly |
ORPHA:309854 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
Cahmr Syndrome |
|
Generalized hypertrichosis, Lamellar cataract |
OMIM:211770 |
Bardet-Biedl Syndrome 1 |
|
Rod-cone dystrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Retinal dystrophy,... |
OMIM:209900 |
Trichinellosis |
|
Anisocoria, Abnormal uvea morphology, Conjunctival hyperemia, Conjunctivitis |
ORPHA:863 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:612653 |
Cockayne Syndrome |
|
Retinal hemorrhage, Retinal arteriolar constriction, Lentiglobus, Optic atrophy, Retinal atro |