Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Persistent pupillary membrane, Cataract |
OMIM:620253 |
Retinitis Pigmentosa 40 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613801 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Coats Disease |
|
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... |
ORPHA:190 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... |
OMIM:143200 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... |
OMIM:193230 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... |
OMIM:618220 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... |
OMIM:180104 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... |
OMIM:614292 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Central Retinal Vein Occlusion |
|
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... |
ORPHA:411527 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract |
ORPHA:90654 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Cataract, Optic disc pallor |
OMIM:165300 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... |
ORPHA:231736 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... |
ORPHA:179 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization |
OMIM:615439 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme concentration or activity, Abnormal urine carbohydrate level, Abnorma... |
ORPHA:2056 |
Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... |
OMIM:614500 |
Exudative Vitreoretinopathy 1 |
|
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... |
OMIM:133780 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... |
OMIM:305390 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Shallow anterior chamber, Tractional retinal detachment, Exudative vitreoretinop... |
OMIM:613310 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... |
OMIM:613731 |
Retinitis Pigmentosa 36 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610599 |
Cataract 21, Multiple Types |
|
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... |
OMIM:610202 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... |
ORPHA:891 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy |
OMIM:121900 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... |
OMIM:225200 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Microphthalmia, Isolated 5 |
|
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... |
OMIM:611040 |
Aniridia 2 |
|
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma |
OMIM:617141 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy, Cataract |
OMIM:614284 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia |
ORPHA:1068 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... |
OMIM:613835 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... |
OMIM:616108 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... |
OMIM:617319 |
Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... |
OMIM:204100 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Retinal Dystrophy And Obesity |
|
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... |
OMIM:616188 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:618513 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... |
OMIM:193220 |
Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... |
OMIM:616468 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... |
OMIM:608850 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... |
ORPHA:59181 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
Exfoliation Syndrome |
|
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... |
OMIM:177650 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Neovascular Glaucoma |
|
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... |
ORPHA:94058 |
Isolated Aniridia |
|
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia |
ORPHA:250923 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Exudative Vitreoretinopathy 4 |
|
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... |
OMIM:601813 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... |
OMIM:251270 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... |
OMIM:180210 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... |
ORPHA:1473 |
Retinitis Pigmentosa 86 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... |
OMIM:618613 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Chorioretinal coloboma, Iris coloboma |
OMIM:120433 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia, Progressive cataract, Developmental cataract |
OMIM:246000 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Optic atrophy, Cataract |
OMIM:620312 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... |
ORPHA:2334 |
Familial Drusen |
|
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions |
ORPHA:99000 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... |
OMIM:212550 |
Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... |
OMIM:617304 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Retinitis Pigmentosa 2 |
|
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... |
OMIM:312600 |
Retinitis Pigmentosa 46 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... |
OMIM:612572 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy |
OMIM:600790 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma |
OMIM:616722 |
Cataract 9, Multiple Types |
|
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma |
OMIM:604219 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Shallow anterior chamber, Macular atrophy |
OMIM:267760 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... |
OMIM:613194 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Coloboma, Developmental cataract, Retinal dysplasia |
ORPHA:324416 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation |
ORPHA:171844 |
Eales Disease |
|
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... |
ORPHA:40923 |
Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... |
OMIM:603075 |
Retinitis Pigmentosa 32 |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... |
OMIM:609913 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto... |
OMIM:618173 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Retinopathy, Cataract |
OMIM:183800 |
Retinitis Pigmentosa 10 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... |
OMIM:180105 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Persistent Hyperplastic Primary Vitreous |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... |
ORPHA:91495 |
Coloboma, Ocular, Autosomal Recessive |
|
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P... |
OMIM:204000 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Microphthalmia/Coloboma 12 |
|
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... |
OMIM:120200 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Ab... |
OMIM:300476 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Macular degeneration, Cataract, Retinal degeneration, Rod-cone dystrophy |
OMIM:204200 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Retinitis Pigmentosa 56 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... |
OMIM:613581 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Retinitis Pigmentosa 25 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... |
OMIM:602772 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vascular system, Ret... |
OMIM:221900 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy |
OMIM:268100 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Norrie Disease |
|
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... |
OMIM:310600 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Irvan Syndrome |
|
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... |
ORPHA:209943 |
Rotor Syndrome |
|
Jaundice, Abnormal circulating enzyme concentration or activity, Porphyrinuria, Intermittent jaun... |
ORPHA:3111 |
Cataract 16, Multiple Types |
|
Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract |
OMIM:613763 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pallor |
OMIM:616171 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... |
OMIM:618195 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Retinitis Pigmentosa 43 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... |
OMIM:613810 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Uveal Melanoma |
|
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... |
ORPHA:39044 |
Senior-Loken Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Retinal pigment epithelial ... |
OMIM:300424 |
Congenital Primary Aphakia |
|
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... |
ORPHA:83461 |
Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment, Leukocoria |
OMIM:300216 |
Retinitis Pigmentosa 14 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const... |
OMIM:600132 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... |
ORPHA:414 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
Intermediate Uveitis |
|
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... |
ORPHA:279914 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract |
ORPHA:250984 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma |
ORPHA:1259 |
Retinitis Pigmentosa 60 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... |
OMIM:613983 |
Chromosome 16Q12 Duplication Syndrome |
|
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... |
OMIM:619649 |
Cataract 6, Multiple Types |
|
Choroideremia, Developmental cataract, Posterior polar cataract |
OMIM:116600 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d... |
ORPHA:263479 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... |
OMIM:165550 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Retinitis Pigmentosa 72 |
|
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... |
OMIM:616469 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
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 |
Anterior Segment Dysgenesis 2 |
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Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... |
OMIM:610256 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:615434 |
Retinitis Pigmentosa 37 |
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Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Rod-cone dystroph... |
OMIM:611131 |
Bardet-Biedl Syndrome 9 |
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Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar... |
OMIM:615986 |
Retinitis Pigmentosa 66 |
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Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti... |
OMIM:615233 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Oculoauricular Syndrome |
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Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... |
OMIM:612109 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Cataract |
OMIM:254000 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Cataract |
OMIM:618660 |
Leber Congenital Amaurosis 7 |
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Cataract, Keratoconus |
OMIM:613829 |
Tricho-Retino-Dento-Digital Syndrome |
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Juvenile cataract, Abnormality of retinal pigmentation |
ORPHA:1264 |
Alpha-Methylacyl-Coa Racemase Deficiency |
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Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:614307 |
Woolly Hair |
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Cataract, Abnormal pupil morphology, Abnormal retinal morphology |
ORPHA:170 |
Stickler Syndrome Type 1 |
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Retinal detachment, Abnormal vitreous humor morphology, Cataract |
ORPHA:90653 |
Retinal Dystrophy With Or Without Macular Staphyloma |
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Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal dystrophy, Atten... |
OMIM:617547 |
Aniridia 1 |
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Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... |
OMIM:106210 |
Anterior Segment Dysgenesis 5 |
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Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... |
OMIM:604229 |
Cataract 10, Multiple Types |
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Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract |
OMIM:600881 |
Achondrogenesis Type 2 |
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Retinal detachment, Abnormal vitreous humor morphology, Lens subluxation, Cataract |
ORPHA:93296 |
Idiopathic Panuveitis |
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Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... |
ORPHA:280921 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
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Optic atrophy, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corneal opacity,... |
OMIM:152950 |
Kahrizi Syndrome |
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Cataract, Iris coloboma |
OMIM:612713 |
Adenine Phosphoribosyltransferase Deficiency |
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Acute kidney injury, Abnormal circulating enzyme concentration or activity, Recurrent urinary tra... |
ORPHA:976 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Retinal detachment, Optic nerve hypoplasia, Cataract |
OMIM:615181 |
Chromosome Xp11.3 Deletion Syndrome |
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Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro... |
OMIM:300578 |
Nance-Horan Syndrome |
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Retinal detachment, Microcornea, Cataract |
ORPHA:627 |
Cataract 1, Multiple Types |
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Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract |
OMIM:116200 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
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Acute kidney injury, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria, Increased phos... |
ORPHA:411536 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Optic atrophy, Subcapsular cataract, Rod-cone dystrophy, Cataract |
OMIM:612674 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... |
ORPHA:364055 |
Retinitis Punctata Albescens |
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Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... |
ORPHA:52427 |
Aniridia 3 |
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Cataract, Aniridia |
OMIM:617142 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Vogt-Koyanagi-Harada Disease |
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Retinal detachment, Cataract |
ORPHA:3437 |
Infantile Spasms-Broad Thumbs Syndrome |
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Cataract, Optic disc pallor |
ORPHA:3173 |
Cataract 14, Multiple Types |
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Zonular cataract |
OMIM:601885 |
Linear Verrucous Nevus Syndrome |
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Aplasia/Hypoplasia of the fovea, Retinopathy, Cataract, Abnormal cornea morphology, Iris coloboma |
ORPHA:2611 |
Aniridia And Absent Patella |
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Cataract, Aniridia |
OMIM:106220 |
Retinitis Pigmentosa 97 |
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Macular degeneration, Rod-cone dystrophy, Iris atrophy |
OMIM:620422 |
Pierson Syndrome |
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Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... |
OMIM:609049 |
Joubert Syndrome 9 |
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Cataract, Astigmatism, Retinal dystrophy |
OMIM:612285 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Proximal Myotonic Myopathy |
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Cataract |
ORPHA:606 |
Stickler Syndrome, Type Ii |
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Retinal detachment, Abnormal vitreous humor morphology, Cataract |
OMIM:604841 |
Peters Anomaly |
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Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... |
ORPHA:708 |
Stickler Syndrome, Type Iv |
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Astigmatism, Chorioretinal degeneration, Degenerative vitreoretinopathy, Rhegmatogenous retinal d... |
OMIM:614134 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Cataract, Macular degeneration |
OMIM:619780 |
Microphthalmia, Syndromic 5 |
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Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microcornea, Cataract |
OMIM:610125 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Optic atrophy, Cataract, Retinal dysplasia |
ORPHA:272 |
Retinitis Pigmentosa 74 |
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Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract |
OMIM:616562 |
Microphthalmia With Brain And Digit Anomalies |
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Retinal dystrophy, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Iris coloboma |
ORPHA:139471 |
Srd5A3-Cdg |
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Optic atrophy, Optic disc hypoplasia, Coloboma, Cataract, Rod-cone dystrophy |
ORPHA:324737 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ... |
OMIM:268315 |
Bietti Crystalline Corneoretinal Dystrophy |
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Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals, Retinal degeneration |
OMIM:210370 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract |
OMIM:273680 |
Cataract 3, Multiple Types |
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Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract |
OMIM:601547 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Cataract, Optic disc pallor |
OMIM:613730 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cat... |
OMIM:609033 |
X-Linked Intellectual Disability, Najm Type |
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Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract |
ORPHA:163937 |
Antiphospholipid Syndrome, Familial |
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Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Keratitis, Vitr... |
OMIM:107320 |
Neonatal Adrenoleukodystrophy |
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Optic atrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:44 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Cataract, Macular degeneration, Tortuosity of conjunctival vessels |
ORPHA:284289 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Macular coloboma, Geographic atrophy, Attenuation of retinal blood vessels, Cataract, Retinal deg... |
OMIM:619260 |
Cataract 48 |
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Cataract |
OMIM:618415 |
Phacoanaphylactic Uveitis |
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Abnormal corneal endothelium morphology, Abnormal vitreous humor morphology, Hypopyon, Posterior ... |
ORPHA:209959 |
Primary Hyperoxaluria Type 3 |
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Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... |
ORPHA:93600 |
Cataract 5, Multiple Types |
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Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... |
OMIM:614643 |
Refsum Disease, Classic |
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Cataract, Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
Hypogonadism-Cataract Syndrome |
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Cataract |
OMIM:240950 |
Sympathetic Ophthalmia |
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Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... |
ORPHA:79098 |
Peroxisome Biogenesis Disorder 9B |
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Cataract, Rod-cone dystrophy |
OMIM:614879 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Cataract |
ORPHA:3233 |
Otodental Syndrome |
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Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma |
ORPHA:2791 |
Cataract 24 |
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Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Walker-Warburg Syndrome |
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Optic atrophy, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Microcornea, Corneal opa... |
ORPHA:899 |
Anterior Segment Dysgenesis 1 |
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Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... |
OMIM:107250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Cataract, Retinal degeneration, Coloboma |
OMIM:615249 |
Hyperferritinemia With Or Without Cataract |
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Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract |
OMIM:600886 |
Aniridia-Absent Patella Syndrome |
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Cataract, Aniridia |
ORPHA:1069 |
Amyloidosis, Finnish Type |
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Lattice corneal dystrophy, Cataract, Optic neuropathy |
OMIM:105120 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Optic atrophy, Cataract, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:2715 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Cataract, Buphthalmos, Retinal dystrophy |
ORPHA:370997 |
Cataract 39, Multiple Types |
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Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Knobloch Syndrome |
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Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ... |
ORPHA:1571 |
Isolated Ectopia Lentis |
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Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Papillorenal Syndrome |
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Retinal detachment, Macular degeneration, Chorioretinal atrophy, Lens luxation, Retinal coloboma,... |
OMIM:120330 |
Cataract 23, Multiple Types |
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Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Proteus-Like Syndrome |
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Retinal detachment, Heterochromia iridis, Cataract, Limbal dermoid, Abnormal pupil morphology |
ORPHA:2969 |
Cataract 20, Multiple Types |
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Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract |
OMIM:116100 |
Norrie Disease |
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Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Aplasia/Hyp... |
ORPHA:649 |
Cataract 31, Multiple Types |
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Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Cataract 30, Multiple Types |
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Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract |
OMIM:116300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Coloboma, Retinal a... |
OMIM:236670 |
Stromme Syndrome |
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Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Peters anomaly, Retinal vascular tor... |
OMIM:243605 |
Alport Syndrome 2, Autosomal Recessive |
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Cataract, Anterior lenticonus, Corneal erosion |
OMIM:203780 |
Xeroderma Pigmentosum, Complementation Group B |
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Optic atrophy, Cataract, Pigmentary retinopathy |
OMIM:610651 |
Werner Syndrome |
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Cataract, Retinal degeneration |
OMIM:277700 |
Full Nf2-Related Schwannomatosis |
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Retinal hamartoma, Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Abnor... |
ORPHA:637 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Macular edema, Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascula... |
ORPHA:247691 |
Cataract 15, Multiple Types |
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Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
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Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:611391 |
Atelis Syndrome 2 |
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Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system |
OMIM:620185 |
Schwannomatosis, Vestibular |
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Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac... |
OMIM:101000 |
Autosomal Dominant Optic Atrophy And Cataract |
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Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular ... |
ORPHA:67036 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Coloboma, Microcornea, Sclerocornea, Ectopia pupillae, Cataract |
OMIM:615877 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Optic atrophy, Buphthalmos, Retinal dysplasia, Coloboma, Retinal atrophy, Megalocornea, Hypoplasi... |
OMIM:253280 |
Phace Syndrome |
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Retinal vascular malformation, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens c... |
ORPHA:42775 |
Neuroocular Syndrome |
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Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Len... |
OMIM:619539 |
Osteoporosis-Pseudoglioma Syndrome |
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Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Iris atrophy, Absent anterior ch... |
OMIM:259770 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmental cataract,... |
OMIM:300166 |
Holoprosencephaly 2 |
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Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
Acromelic Frontonasal Dysostosis |
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Optic nerve hypoplasia, Remnants of the hyaloid vascular system |
OMIM:603671 |