Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cataract, Retinal dystrophy |
OMIM:615995 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Myopia 17, Autosomal Dominant |
|
Retinal hole, Presenile cataracts |
OMIM:608367 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Developmental cataract |
OMIM:246000 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Morm Syndrome |
|
Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration |
OMIM:204200 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... |
OMIM:204000 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
OMIM:601794 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
ORPHA:363741 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract |
ORPHA:324416 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... |
OMIM:300424 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy |
ORPHA:3156 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Choroideremia, Developmental cataract |
OMIM:116600 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract |
OMIM:613763 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism |
ORPHA:250984 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... |
OMIM:615986 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Maternally-Inherited Diabetes And Deafness |
|
Retinopathy, Macular dystrophy, Cataract, Abnormal chorioretinal morphology |
ORPHA:225 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Cataract, Pigmentary retinopathy |
OMIM:614307 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Oculoauricular Syndrome |
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Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Anterior Segment Dysgenesis 5 |
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Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Myopia 3, Autosomal Dominant |
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Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Retinal Dystrophy With Or Without Macular Staphyloma |
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Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Stickler Syndrome, Type Ii |
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Retinal detachment, Cataract, Abnormal vitreous humor morphology |
OMIM:604841 |
Peters Anomaly |
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Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Tricho-Retino-Dento-Digital Syndrome |
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Abnormality of retinal pigmentation, Juvenile cataract |
ORPHA:1264 |
Woolly Hair |
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Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Stickler Syndrome Type 1 |
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Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
Idiopathic Panuveitis |
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Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
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Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Retinitis Pigmentosa |
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Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Aniridia 1 |
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Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract |
OMIM:273680 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
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Cataract, Corneal dystrophy |
ORPHA:1369 |
Achondrogenesis Type 2 |
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Retinal detachment, Cataract, Lens subluxation, Abnormal vitreous humor morphology |
ORPHA:93296 |
Nance-Horan Syndrome |
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Microcornea, Retinal detachment, Cataract |
ORPHA:627 |
Pellagra-Like Syndrome |
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Cataract |
OMIM:260650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Retinal detachment, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract |
OMIM:612674 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Chromosome Xp11.3 Deletion Syndrome |
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Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Anterior Segment Dysgenesis 2 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Infantile Spasms-Broad Thumbs Syndrome |
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Optic disc pallor, Cataract |
ORPHA:3173 |
Vogt-Koyanagi-Harada Disease |
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Retinal detachment, Cataract |
ORPHA:3437 |
Cataract 20, Multiple Types |
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Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Congenital Varicella Syndrome |
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Cataract |
ORPHA:291 |
Joubert Syndrome 9 |
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Cataract, Retinal dystrophy, Astigmatism |
OMIM:612285 |
Cataract 48 |
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Cataract |
OMIM:618415 |
Pierson Syndrome |
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Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Aniridia 3 |
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Aniridia, Cataract |
OMIM:617142 |
Retinitis Pigmentosa 74 |
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Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Aniridia And Absent Patella |
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Aniridia, Cataract |
OMIM:106220 |
Hypogonadism-Cataract Syndrome |
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Cataract |
OMIM:240950 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Cataract |
ORPHA:3233 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Macular degeneration, Cataract |
OMIM:619780 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Bietti Crystalline Corneoretinal Dystrophy |
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Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Anterior Segment Dysgenesis 1 |
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Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Optic disc pallor, Cataract |
OMIM:613730 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con... |
OMIM:609033 |
Antiphospholipid Syndrome, Familial |
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Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... |
OMIM:107320 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Phacoanaphylactic Uveitis |
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Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal... |
ORPHA:209959 |
Cataract 39, Multiple Types |
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Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Microphthalmia With Brain And Digit Anomalies |
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Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
Sympathetic Ophthalmia |
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Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Refsum Disease, Classic |
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Rod-cone dystrophy, Cataract, Retinal degeneration |
OMIM:266500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Peroxisome Biogenesis Disorder 9B |
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Rod-cone dystrophy, Cataract |
OMIM:614879 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Cardiomyopathy, Dilated, 1Ii |
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Cataract |
OMIM:615184 |
Otodental Syndrome |
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Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma |
ORPHA:2791 |
Microphthalmia, Syndromic 5 |
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Microcornea, Cataract, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Cataract 31, Multiple Types |
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Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Isolated Ectopia Lentis |
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Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Aniridia-Absent Patella Syndrome |
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Aniridia, Cataract |
ORPHA:1069 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Buphthalmos, Cataract, Retinal dystrophy |
ORPHA:370997 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Papillorenal Syndrome |
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Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Knobloch Syndrome |
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Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... |
ORPHA:1571 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
Stromme Syndrome |
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Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... |
OMIM:243605 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
Atelis Syndrome 2 |
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Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract |
OMIM:620185 |
Autosomal Dominant Optic Atrophy And Cataract |
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Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... |
OMIM:300166 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |