Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Wagner Vitreoretinopathy |
|
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... |
OMIM:143200 |
Coats Disease |
|
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... |
ORPHA:190 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic atrophy, Optic disc pallor |
OMIM:165300 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Birdshot Chorioretinopathy |
|
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... |
ORPHA:179 |
Retinitis Pigmentosa 84 |
|
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618220 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... |
OMIM:614292 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... |
ORPHA:231736 |
Retinitis Pigmentosa 9 |
|
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... |
OMIM:180104 |
Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy |
ORPHA:90654 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Subcapsular cataract, Retinal exudate, Re... |
OMIM:133780 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... |
OMIM:193230 |
Cone-Rod Dystrophy 16 |
|
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... |
OMIM:614500 |
Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... |
ORPHA:891 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Retinitis Pigmentosa 4 |
|
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... |
OMIM:613731 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... |
OMIM:309300 |
Leber Congenital Amaurosis 2 |
|
Cataract, Eye poking, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Att... |
OMIM:204100 |
Leber Congenital Amaurosis 8 |
|
Cataract, Eye poking, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atr... |
OMIM:613835 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Tractional retinal detachment, Shallow anterior chamber, Falciform retinal fold,... |
OMIM:613310 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
Morm Syndrome |
|
Retinal dystrophy, Cataract, Aggressive behavior, Retinal atrophy |
ORPHA:75858 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... |
OMIM:610202 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Retinitis Pigmentosa 13 |
|
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... |
OMIM:600059 |
Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th... |
OMIM:611040 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Macular degeneration, Anxiety, Dementia, Retinal degeneration, Psychomotor deterioratio... |
OMIM:204200 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ... |
OMIM:616108 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Leber Congenital Amaurosis 1 |
|
Cataract, Eye poking, Pigmentary retinopathy, Hyperthreoninemia, Fundus atrophy, Keratoconus, Att... |
OMIM:204000 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... |
OMIM:193220 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal ... |
OMIM:251270 |
Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Astigmatism, Retinal detachment, Retinal dots, Attenuation of retinal bloo... |
OMIM:616188 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... |
OMIM:616468 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Optic nerve dysplasia, Progressive cataract |
OMIM:246000 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Corne... |
ORPHA:1473 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Stickler Syndrome, Type V |
|
Cataract, Vitreoretinopathy, Retinal detachment |
OMIM:614284 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
Aniridia 2 |
|
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy |
OMIM:617141 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... |
OMIM:193235 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Neovascular Glaucoma |
|
Retinal vascular proliferation, Retinal detachment, Abnormal anterior chamber morphology, Abnorma... |
ORPHA:94058 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Subcapsular cataract, Retinal exudate, Tractional retinal de... |
OMIM:601813 |
Norrie Disease |
|
Cataract, Retinal detachment, Dementia, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hyp... |
OMIM:310600 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Eales Disease |
|
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Iris neovascularizat... |
ORPHA:40923 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Retinal dysplasia, Ocular anterior segment dysgenesis |
ORPHA:324416 |
Retinitis Pigmentosa 86 |
|
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:618613 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... |
ORPHA:83461 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Chor... |
OMIM:212550 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Cognitive impairment, Optic atrophy, Dementia |
ORPHA:329314 |
Retinitis Pigmentosa 2 |
|
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... |
OMIM:312600 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Tractional retinal detachment, Buphthalmos, Persistent pupillary membrane, Shallow ante... |
ORPHA:91495 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Chorioretinal coloboma, Iris coloboma |
OMIM:120433 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Corneal opacity, Optic disc c... |
OMIM:120200 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Shallow anterior chamber, Macular atrophy, Cystoid macular degeneration, Retinal degeneration |
OMIM:267760 |
Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... |
ORPHA:2334 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation |
ORPHA:171844 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... |
OMIM:617304 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... |
OMIM:613194 |
Cataract 9, Multiple Types |
|
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Re... |
OMIM:221900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Macular atrophy, Optic disc pallor, Retinopathy, Optic atrophy, Microcornea |
OMIM:616171 |
Isolated Aniridia |
|
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Elevated circulating phytanic acid concentration, Increased circulating very long-chain... |
OMIM:614307 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Retinitis Pigmentosa 83 |
|
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... |
OMIM:618173 |
Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrop... |
OMIM:612572 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180105 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation |
ORPHA:65 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613581 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy |
OMIM:616722 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Cataract, Abnormality of retinal pigmentation |
ORPHA:3156 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hyp... |
OMIM:615181 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal hyp... |
ORPHA:414 |
Uveal Melanoma |
|
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Retinal detachment, Vitreous h... |
ORPHA:39044 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:602772 |
Autosomal Recessive Stickler Syndrome |
|
Cataract, Vitreoretinopathy, Retinal detachment, Astigmatism |
ORPHA:250984 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the ... |
OMIM:618195 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Hypophosphatemia, Iris coloboma, Aplasia/Hypoplasia of the fovea, Mental deterioration,... |
ORPHA:2611 |
Enhanced S-Cone Syndrome |
|
Cataract, Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema |
OMIM:268100 |
Vogt-Koyanagi-Harada Disease |
|
Cataract, Cognitive impairment, Retinal detachment |
ORPHA:3437 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Cataract |
OMIM:618660 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal circulating lipid concentration, Macular dystrophy, Retinopathy, Abnormal chor... |
ORPHA:225 |
Retinitis Pigmentosa 23 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Absent foveal reflex, R... |
OMIM:300424 |
Flynn-Aird Syndrome |
|
Cataract, Dementia, Rod-cone dystrophy |
OMIM:136300 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Chorioretinal dysplasia, Astigmatism, Retinal detachment, Optic atrophy, Chorioretinal ... |
OMIM:152950 |
Intermediate Uveitis |
|
Cataract, Vitreous floaters, Optic neuritis, Vitreous snowballs, Epiretinal membrane, Cystoid mac... |
ORPHA:279914 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Abnormal circulating cholesterol concentration, Cognitive impairment, Optic atrophy, Cataract |
OMIM:270800 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Mental deterioration, Macular degeneration |
OMIM:619780 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613810 |
Muscle-Eye-Brain Disease |
|
Cataract, Cognitive impairment, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Pierson Syndrome |
|
Cataract, Hypoproteinemia, Retinal vascular tortuosity, Hypopigmentation of the fundus, Rieger an... |
OMIM:609049 |
Bardet-Biedl Syndrome 9 |
|
Cataract, Astigmatism, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:615986 |
Stickler Syndrome, Type Ii |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology |
OMIM:604841 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Retinal detachment, Elevated circulating creatine kinase concentration, Corneal opacity... |
OMIM:613153 |
Retinitis Pigmentosa |
|
Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Keratoconus,... |
ORPHA:791 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:613983 |
Stickler Syndrome Type 1 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90653 |
Oculoauricular Syndrome |
|
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Morning glory anomaly, Cone/cone-rod dyst... |
OMIM:612109 |
Phenylketonuria |
|
Blue irides, Cataract, Hyperphenylalaninemia, Self-mutilation, Maternal hyperphenylalaninemia, An... |
OMIM:261600 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Asteroid hyalosis, Retinal thinning |
OMIM:132450 |
Cln3 Disease |
|
Cataract, Pigmentary retinopathy, Anxiety, Dementia, Memory impairment, Mental deterioration, Opt... |
ORPHA:228346 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
Achondrogenesis Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Lens subluxation |
ORPHA:93296 |
Retinitis Pigmentosa 72 |
|
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:616469 |
Lissencephaly 8 |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Nance-Horan Syndrome |
|
Cataract, Retinal detachment, Microcornea |
ORPHA:627 |
Prune1-Related Neurological Syndrome |
|
Cataract, Retinopathy, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:544469 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Pigmentary retinopathy, Memory impairment, Elevated circulating creatine kinase concent... |
ORPHA:79095 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hyp... |
OMIM:614643 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Aniridia 1 |
|
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... |
OMIM:106210 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Subcapsular cataract, Optic atrophy, Rod-cone dystrophy |
OMIM:612674 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Retinal detachment, Leukocoria |
ORPHA:2714 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... |
ORPHA:364055 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Cataract, Optic disc pallor |
ORPHA:3173 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... |
OMIM:610256 |
Cataract 16, Multiple Types |
|
Developmental cataract, Posterior polar cataract, Lenticonus, Retinal dystrophy |
OMIM:613763 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Cataract, Optic atrophy, Retinal dysplasia |
ORPHA:272 |
Chromosome Xp11.3 Deletion Syndrome |
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Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic atrophy, Rod-cone d... |
OMIM:300578 |
Anterior Segment Dysgenesis 7 |
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Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... |
OMIM:269400 |
Woolly Hair |
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Cataract, Abnormal pupil morphology, Abnormal retinal morphology |
ORPHA:170 |
Coats Disease |
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Retinal telangiectasia, Exudative retinal detachment, Leukocoria |
OMIM:300216 |
Genetic Hyperferritinemia Without Iron Overload |
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Cataract, Abnormal transferrin saturation, Increased circulating ferritin concentration, Elevated... |
ORPHA:254704 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Apathy, Abnormal retinal vascular morphology, Cognitive impairment, Anxiety, Progressive neurolog... |
ORPHA:247691 |
Refsum Disease, Classic |
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Cataract, Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Cataract, Coloboma, Elevated circulating creatine kinase concentration, Retinal degeneration |
OMIM:615249 |
Idiopathic Panuveitis |
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Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... |
ORPHA:280921 |
Cardiomyopathy, Dilated, 1Ii |
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Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of retinal... |
OMIM:609033 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
X-Linked Intellectual Disability, Najm Type |
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Cataract, Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia |
ORPHA:163937 |
Coloboma Of Optic Nerve |
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Optic disc coloboma, Retinal detachment |
OMIM:120430 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Cataract, Optic disc pallor |
OMIM:613730 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Cataract, Macular degeneration, Tortuosity of conjunctival vessels |
ORPHA:284289 |
Joubert Syndrome 9 |
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Cataract, Astigmatism, Retinal dystrophy |
OMIM:612285 |
Cataract 47 |
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Cataract, Microcornea |
OMIM:612018 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Cataract, Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Attenuation... |
OMIM:619260 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Infantile Refsum Disease |
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Elevated circulating phytanic acid concentration, Optic atrophy, Cataract, Rod-cone dystrophy |
ORPHA:772 |
Hypoparathyroidism, Familial Isolated, 1 |
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Cataract, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia |
OMIM:146200 |
Microphthalmia, Syndromic 5 |
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Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma |
OMIM:610125 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Cataract, Megalocornea, Retinal detachment, Elevated circulating creatine kinase concentration, O... |
ORPHA:370959 |
Walker-Warburg Syndrome |
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Cataract, Chorioretinal dysplasia, Iris coloboma, Retinal detachment, Abnormal circulating creati... |
ORPHA:899 |
Microphthalmia With Brain And Digit Anomalies |
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Cataract, Iris coloboma, Chorioretinal coloboma, Sclerocornea, Microcornea, Retinal dystrophy |
ORPHA:139471 |
Peroxisome Biogenesis Disorder 9B |
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Cataract, Elevated circulating phytanic acid concentration, Rod-cone dystrophy |
OMIM:614879 |
Classic Phenylketonuria |
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Cataract, Hyperphenylalaninemia, Motor deterioration, Memory impairment, Self-injurious behavior,... |
ORPHA:79254 |
Bietti Crystalline Corneoretinal Dystrophy |
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Corneal crystals, Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Cataract 6, Multiple Types |
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Developmental cataract, Choroideremia, Posterior polar cataract |
OMIM:116600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Pigmentary retinopathy, Elevated circulating creatine kinase concentration, Posterior synechiae o... |
OMIM:613154 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Cataract, Buphthalmos, Elevated circulating creatine kinase concentration, Retinal dystrophy |
ORPHA:370997 |
Otodental Syndrome |
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Cataract, Lens coloboma, Iris coloboma, Retinal coloboma, Microcornea |
ORPHA:2791 |
Antiphospholipid Syndrome, Familial |
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Central retinal artery occlusion, Retinal detachment, Iritis, Vitritis, Keratitis, Retinal vascul... |
OMIM:107320 |
Phacoanaphylactic Uveitis |
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Retinal arteritis, Vitreoretinopathy, Anterior chamber flare grade 1+, Abnormal pupil morphology,... |
ORPHA:209959 |
Aniridia 3 |
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Cataract, Aniridia |
OMIM:617142 |
Isolated Ectopia Lentis |
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Cataract, Cognitive impairment, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Multiple Sulfatase Deficiency |
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Cataract, Rapid neurologic deterioration, Abnormality of retinal pigmentation, Corneal opacity, O... |
ORPHA:585 |
Peters Anomaly |
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Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
Cataract 10, Multiple Types |
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Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Norrie Disease |
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Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal retinal vascular morphology, Abnor... |
ORPHA:649 |
Aniridia And Absent Patella |
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Cataract, Aniridia |
OMIM:106220 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Werner Syndrome |
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Elevated hemoglobin A1c, Hypertriglyceridemia, Cataract, Retinal degeneration |
OMIM:277700 |
Full Nf2-Related Schwannomatosis |
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Epiretinal membrane, Cortical cataract, Memory impairment, Abnormal optic nerve morphology, Retin... |
ORPHA:637 |
Papillorenal Syndrome |
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Cataract, Morning glory anomaly, Macular degeneration, Retinal detachment, Lens luxation, Macular... |
OMIM:120330 |
Proximal Myotonic Myopathy |
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Cataract |
ORPHA:606 |
Alpha-Mannosidosis, Adult Form |
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Cataract, Anxiety, Optic disc pallor, Corneal opacity |
ORPHA:309288 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Abnormal retinal vascular morphology, Optic atrophy, Cataract, Abnormality of retinal pigmentation |
ORPHA:2715 |
Congenital Tufting Enteropathy |
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Cataract, Corneal erosion, Irritability, Punctate keratitis, Optic disc coloboma |
ORPHA:92050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Cataract, Retinal atrophy, Megalocornea, Retinal detachment, Optic nerve hypoplasia, Elevated cir... |
OMIM:236670 |
Atelis Syndrome 2 |
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Developmental cataract, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Anxiety |
OMIM:620185 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Cataract, Buphthalmos, Elevated circulating creatine kinase concentration, Retinal dystrophy |
OMIM:616538 |
Knobloch Syndrome |
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Cataract, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Retinal detachment, Abnormal v... |
ORPHA:1571 |
Proteus-Like Syndrome |
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Cataract, Abnormal pupil morphology, Retinal detachment, Limbal dermoid, Heterochromia iridis |
ORPHA:2969 |
Usher Syndrome |
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Cataract, Astigmatism, Anxiety, Cognitive impairment, Abnormality of retinal pigmentation |
ORPHA:886 |
Cataract 5, Multiple Types |
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Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Aniridia-Absent Patella Syndrome |
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Cataract, Aniridia |
ORPHA:1069 |
Stromme Syndrome |
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Cataract, Retinal vascular tortuosity, Iris coloboma, Optic nerve hypoplasia, Sclerocornea, Micro... |
OMIM:243605 |
Xeroderma Pigmentosum, Complementation Group B |
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Cataract, Pigmentary retinopathy, Optic atrophy |
OMIM:610651 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Retinal atrophy, Megalocornea, Elevated circulating creatine kinase concentration, Reti... |
OMIM:253280 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Cataract, Mental deterioration, Optic atrophy, Memory impairment |
ORPHA:314404 |
Cataract 20, Multiple Types |
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Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract |
OMIM:116100 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Cataract, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hype... |
ORPHA:247598 |
Neuroocular Syndrome |
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Blue irides, Hypoplasia of the fovea, Cataract, Lens coloboma, Brushfield spots, Iris coloboma, S... |
OMIM:619539 |
Autosomal Dominant Optic Atrophy And Cataract |
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Cataract, Cerulean cataract, Posterior cortical cataract, Anterior subcapsular cataract, Anterior... |
ORPHA:67036 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Phace Syndrome |
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Cataract, Retinal vascular malformation, Lens coloboma, Iris coloboma, Optic nerve hypoplasia, Sc... |
ORPHA:42775 |
Osteoporosis-Pseudoglioma Syndrome |
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Cataract, Vitreoretinopathy, Absent anterior chamber of the eye, Retinal calcification, Exudative... |
OMIM:259770 |
Microphthalmia, Syndromic 2 |
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Iris coloboma, Retinal detachment, Developmental cataract, Remnants of the hyaloid vascular syste... |
OMIM:300166 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Cataract, Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, A... |
ORPHA:91500 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Cyclopia, Chorioretinal coloboma, Iris coloboma |
OMIM:157170 |