| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
| Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma, Microphthalmia |
OMIM:614497 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microcornea, Microphthalmia |
OMIM:251505 |
| Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
| Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma |
OMIM:616428 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
| Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Microcornea |
OMIM:610202 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract |
OMIM:604307 |
| Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... |
ORPHA:83461 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Childhood-onset truncal obesity, Cataract, Truncal obesity |
OMIM:610156 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract |
OMIM:610623 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retina... |
OMIM:212550 |
| Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
| Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation |
OMIM:157150 |
| Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... |
OMIM:610256 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... |
ORPHA:2843 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Dwarfism, Mental Retardation, And Eye Abnormality |
|
Nuclear cataract, Hypoplasia of the iris |
OMIM:223540 |
| Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Obesity, Cataract, Rod-cone dystrophy |
OMIM:615995 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| Facial Paresis, Hereditary Congenital, 1 |
|
Decreased corneal reflex |
OMIM:601471 |
| Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Nuclear cataract |
OMIM:617547 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia, Large for gestational age |
ORPHA:2432 |
| Corneal Dystrophy, Subepithelial Mucinous |
|
Corneal dystrophy |
OMIM:612867 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
| Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
| Cataract 42 |
|
Developmental cataract |
OMIM:115900 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
| Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Iris coloboma, Bilateral microphthalmos |
OMIM:611638 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
| Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, R... |
ORPHA:231736 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Coloboma, Microphthalmia, Cataract |
OMIM:120433 |
| X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Lens coloboma, Microspherophakia, Lens subluxation |
OMIM:157151 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpig... |
OMIM:609218 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Cataract, Obesity |
OMIM:601794 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris coloboma, Reti... |
ORPHA:1473 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Cataract, Obesity |
ORPHA:363741 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Microphthalmia, Retinal non... |
OMIM:221900 |
| Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Microphthalmia, Isolated 3 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
| Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Peters anomaly, Iris coloboma, Coloboma, Ocular anterior segment dysgenesis |
OMIM:610023 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Retinal fold, Microphthalmia |
OMIM:613517 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Cataract, Retinopathy, Microco... |
OMIM:616171 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Norrie Disease |
|
Optic atrophy, Retinal fold, Microphthalmia, Shallow anterior chamber, Hypoplasia of the iris, Re... |
OMIM:310600 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
| Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Microphthalmia, Retinal dysplasia, Coloboma, Ocular anterior segment dysg... |
ORPHA:324416 |
| Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
| Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
| Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Coloboma, Cataract |
OMIM:607906 |
| Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:614819 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Coloboma, Microcornea, Ectopia pupillae |
OMIM:615877 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Mic... |
ORPHA:91495 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Microphthalmia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina,... |
OMIM:611040 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Idiopathic Uveal Effusion Syndrome |
|
Retinal fold, Microphthalmia, Exudative retinal detachment, Abnormal anterior eye segment morphol... |
ORPHA:209956 |
| Morm Syndrome |
|
Retinal dystrophy, Truncal obesity, Cataract, Retinal atrophy |
ORPHA:75858 |
| Corneal Hypesthesia, Familial |
|
Recurrent corneal erosions, Decreased corneal sensation |
OMIM:122450 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Microphthalmia, Retinal fold, Retinal dys... |
OMIM:251270 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... |
OMIM:616468 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Small for gestational age, Abnormality iris morphology, Failure to thrive, Catara... |
ORPHA:1617 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... |
OMIM:217800 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
| Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... |
OMIM:604229 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... |
ORPHA:54 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Cystoid macular ... |
OMIM:267760 |
| Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Obesity, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal de... |
OMIM:616188 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Attenuation of ret... |
ORPHA:179 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Hypoplasia of the retina, Cataract, Retinal dystrophy |
OMIM:263100 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria |
OMIM:257910 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
| Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
| Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Microphthalmia, Chorioretinal coloboma, Posterior embryotoxon,... |
OMIM:612109 |
| Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Microphthalmia, Tractional retinal detachment, Vitreous floate... |
ORPHA:891 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
| Isolated Aniridia |
|
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea |
OMIM:615147 |
| Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Cerulean cataract |
OMIM:616732 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
| Uveal Melanoma |
|
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... |
ORPHA:39044 |
| Congenital Microcoria |
|
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... |
ORPHA:566 |
| Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos, Cataract |
OMIM:608763 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
| Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
| Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Idiopathic Anterior Uveitis |
|
Nuclear cataract, Posterior subcapsular cataract, Posterior synechiae of the anterior chamber |
ORPHA:280914 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Failure to thrive, Cataract, Small for gestational age |
OMIM:212540 |
| Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... |
ORPHA:209959 |
| Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy |
OMIM:618195 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Failure to thrive, Cataract, Iris coloboma |
ORPHA:171860 |
| Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
| Retinitis Pigmentosa 56 |
|
Nuclear cataract, Posterior subcapsular cataract |
OMIM:613581 |
| Microphthalmia, Syndromic 13 |
|
Coloboma, Microcornea, Microphthalmia |
OMIM:300915 |
| Microphthalmia, Isolated 8 |
|
Coloboma, Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
| Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy |
OMIM:611131 |
| Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
| Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
| Oculocutaneous Albinism Type 6 |
|
Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... |
ORPHA:370097 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
| Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
| Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
| Bardet-Biedl Syndrome 13 |
|
Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo... |
OMIM:615990 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Microphthalmia, Cataract, Small for gestational age |
OMIM:610756 |
| Spondylo-Ocular Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation |
ORPHA:85194 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Chorioretinal coloboma, Iris coloboma |
OMIM:601706 |
| Bardet-Biedl Syndrome 14 |
|
Obesity, Rod-cone dystrophy |
OMIM:615991 |
| Neovascular Glaucoma |
|
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... |
ORPHA:94058 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology |
ORPHA:2119 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Progressive cataract |
OMIM:246000 |
| Biemond Syndrome Type 2 |
|
Coloboma, Microphthalmia |
ORPHA:141333 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhag... |
OMIM:193220 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Sclerocornea, Iris coloboma, Retinal detachment, Microcornea, Ocular anterior seg... |
OMIM:615145 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
| Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Microphthalmia, Sclerocornea, Anophthalmia, Retinal dystrophy, Iris colob... |
ORPHA:139471 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract |
OMIM:614882 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc colobom... |
OMIM:120200 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma, Microcornea, Macular atrophy |
OMIM:602499 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract |
ORPHA:2278 |
| Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Phakodonesis, Ectopia lentis |
OMIM:613195 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
| Galactokinase Deficiency |
|
Nuclear cataract, Cataract |
ORPHA:79237 |
| Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Coloboma, Micr... |
OMIM:610125 |
| Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
| Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
| Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
| Cat-Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Iris coloboma |
ORPHA:195 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... |
ORPHA:69736 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
| Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Retinal detachment, Corneal opacity, Cataract, Coloboma |
OMIM:613153 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Cataract |
ORPHA:2489 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
| Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract |
OMIM:300424 |
| Short Syndrome |
|
Hypoplasia of the iris, Posterior embryotoxon, Weight loss, Abnormal pupil morphology, Corneal op... |
ORPHA:3163 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Truncal obesity, Pigmentary retinopathy |
OMIM:268050 |
| Late-Onset Retinal Degeneration |
|
Macular atrophy, Multifocal subretinal deposits, Patchy atrophy of the retinal pigment epithelium... |
ORPHA:67042 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
| Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Microphthalmia |
OMIM:274270 |
| Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Small for gestational age |
ORPHA:85288 |
| Nance-Horan Syndrome |
|
Retinal detachment, Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Macular atrophy, Abnormality of retinal pigmentation, Microphthalmia, Lens subluxation, Retinal a... |
ORPHA:85167 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Dilution, Pigmentary |
|
Hypopigmentation of the fundus, Iris hypopigmentation |
OMIM:126070 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia, Retinal coloboma, Iris coloboma, Cataract, Microcornea |
ORPHA:2791 |
| Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Cataract |
OMIM:617393 |
| Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Cataract |
ORPHA:1466 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... |
OMIM:305390 |
| Anisocoria |
|
Anisocoria |
OMIM:106240 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Microphthalmia, Myopic astigmatism, Chorioretinal dysplasia, Chorior... |
OMIM:152950 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon |
OMIM:602482 |
| Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
| Triopia |
|
Abnormal pupil morphology, Microcornea, Iris coloboma |
ORPHA:3374 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Retinopathy |
OMIM:615988 |
| Insulinomatosis And Diabetes Mellitus |
|
Developmental cataract, Developmental glaucoma |
OMIM:147630 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
| Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
| Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Trunc... |
OMIM:615986 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract |
OMIM:615181 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Iris coloboma |
OMIM:613702 |
| Temtamy Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Iris coloboma |
ORPHA:1777 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
| Bardet-Biedl Syndrome 12 |
|
Obesity, Rod-cone dystrophy |
OMIM:615989 |
| Heterochromia Iridis |
|
Heterochromia iridis, Asymmetry of iris pigmentation |
OMIM:142500 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Cataract, Rod-cone dystrophy, Macular degeneration |
OMIM:204200 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Microphthalmia, Cataract, Astigmatism, Ectopia pupillae |
OMIM:618727 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy |
OMIM:616722 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
| Warburg Micro Syndrome 3 |
|
Optic atrophy, Developmental cataract, Microphthalmia, Shallow anterior chamber, Cataract, Microc... |
OMIM:614222 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Developmental cataract, Microphthalmia, Failure to thrive, Microcornea |
OMIM:600118 |
| Proteus-Like Syndrome |
|
Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology, Retinal detachment, Cataract |
ORPHA:2969 |
| Wagr Syndrome |
|
Obesity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:893 |
| Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma |
OMIM:169550 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
| Papillorenal Syndrome |
|
Microphthalmia, Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc co... |
OMIM:120330 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Microcornea, Microphthalmia, Developmental cataract |
OMIM:615663 |
| Nail-Patella Syndrome |
|
Lester's sign, Microphakia, Antecubital pterygium, Cataract, Microcornea, Keratoconus |
OMIM:161200 |
| Pierson Syndrome |
|
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... |
OMIM:609049 |
| Bardet-Biedl Syndrome 10 |
|
Retinal dystrophy, Obesity, Rod-cone dystrophy |
OMIM:615987 |
| Intermediate Uveitis |
|
Vitreous floaters, Macular edema, Anterior uveitis, Optic neuritis, Vitreous snowballs, Posterior... |
ORPHA:279914 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Coloboma, Microphthalmia |
OMIM:617306 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis, Retinal degeneration |
OMIM:613615 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... |
OMIM:618613 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the iris, Corneal opac... |
ORPHA:290 |
| Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
| Galactose Epimerase Deficiency |
|
Weight loss, Cataract |
ORPHA:79238 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... |
OMIM:180500 |
| Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of the optic disc, Abnormality of retinal pigmentation, Cataract |
ORPHA:65 |
| Bardet-Biedl Syndrome 6 |
|
Retinal dystrophy, Obesity, Rod-cone dystrophy |
OMIM:605231 |
| Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... |
ORPHA:791 |
| WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
| Juvenile Glaucoma |
|
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Abnormality iris mo... |
ORPHA:98977 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
| Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Microcornea, Microphthalmia, Developmental cataract |
OMIM:302350 |
| Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Posterior subcapsular cataract, Retinal atrophy, Rod-cone dystrophy |
OMIM:617304 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Microphthalmia, Cataract |
OMIM:618805 |
| Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Retinal degeneration, Abnormally large globe, Cataract, Coloboma |
OMIM:615249 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Exudative vitreoretinopathy, Retinal detachment, Corneal opacity, Abnormal vitreo... |
ORPHA:2788 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Microphthalmia, Ectopia lentis |
OMIM:601552 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Failure to thrive, Cataract |
OMIM:617228 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Iris hypopigmentation, Cataract |
ORPHA:67048 |
| Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... |
OMIM:617406 |
| Linear Verrucous Nevus Syndrome |
|
Iris coloboma, Retinopathy, Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Macular dystrophy, Rod-cone dystrophy |
OMIM:615983 |
| Mental Retardation, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract |
ORPHA:1875 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Microphthalmia, Antecubital pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
| Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... |
ORPHA:137599 |
| Galactose Mutarotase Deficiency |
|
Failure to thrive, Cataract |
ORPHA:570422 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
| Iris Hypoplasia With Glaucoma |
|
Iris atrophy, Hypoplasia of the iris |
OMIM:308500 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Cataract |
OMIM:616271 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis |
ORPHA:1259 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Microphthalmia, Cataract |
OMIM:214150 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Microphthalmia, Corneal opacity, Cataract, Coloboma, Bilateral microphtha... |
ORPHA:2399 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Persistent pupillary membrane, Microphthalmia, Failure to thrive, Cataract, Microcornea |
OMIM:257850 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
| Humero-Radial Synostosis |
|
Chorioretinal coloboma, Aplasia/Hypoplasia affecting the eye, Iris coloboma |
ORPHA:3265 |
| Mevalonic Aciduria |
|
Nuclear cataract, Cataract |
OMIM:610377 |
| 3Q29 Microduplication Syndrome |
|
Microphthalmia, Sclerocornea, Aniridia, Iris coloboma, Cataract, Obesity |
ORPHA:251038 |
| Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... |
ORPHA:414 |
| Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration |
OMIM:615458 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Walker-Warburg Syndrome |
|
Abnormality of the optic nerve, Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, R... |
ORPHA:899 |
| Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Retinal dystrophy, Cataract, Failure to thrive |
OMIM:614877 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cataract |
OMIM:616647 |
| Joubert Syndrome 22 |
|
Coloboma, Microphthalmia |
OMIM:615665 |
| Adams-Oliver Syndrome 2 |
|
Optic atrophy, Developmental cataract, Microphthalmia |
OMIM:614219 |
| Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... |
ORPHA:85445 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
