| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... |
OMIM:309300 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... |
OMIM:217700 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Corneal Dystrophy, Congenital Stromal |
|
Corneal erosion, Increased corneal thickness, Band-shaped corneal dystrophy, Corneal dystrophy |
OMIM:610048 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
| Leber Congenital Amaurosis 4 |
|
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Attenuation of retinal ... |
OMIM:604393 |
| Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea |
OMIM:217300 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
| Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... |
ORPHA:98969 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Nummul... |
OMIM:613835 |
| Leber Congenital Amaurosis 2 |
|
Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ... |
OMIM:204100 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... |
ORPHA:293603 |
| Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... |
OMIM:193230 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Ring Dermoid Of Cornea |
|
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... |
OMIM:610202 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
| Brittle Cornea Syndrome 2 |
|
Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero... |
OMIM:614170 |
| Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... |
OMIM:136800 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Coats Disease |
|
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... |
ORPHA:190 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy |
OMIM:609141 |
| Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
| Edict Syndrome |
|
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea |
OMIM:614303 |
| Leber Congenital Amaurosis 1 |
|
Cataract, Pigmentary retinopathy, Fundus atrophy, Keratoconus, Attenuation of retinal blood vesse... |
OMIM:204000 |
| Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy |
ORPHA:90654 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... |
OMIM:614292 |
| Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
| Retinitis Pigmentosa 13 |
|
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... |
OMIM:600059 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation |
ORPHA:65 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal guttata, Corneal dystrophy |
OMIM:615523 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... |
ORPHA:83461 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... |
OMIM:613270 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
| Brittle Cornea Syndrome 1 |
|
Keratoglobus, Keratoconus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... |
ORPHA:231736 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
| Retinitis Pigmentosa |
|
Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Keratoconus,... |
ORPHA:791 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... |
ORPHA:98964 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract |
OMIM:116200 |
| Dermatitis, Atopic |
|
Cataract, Keratoconus, Conjunctivitis |
OMIM:603165 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment, Leukocoria |
OMIM:300216 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy |
OMIM:616722 |
| Brittle Cornea Syndrome |
|
Keratoglobus, Corneal erosion, Corneal scarring, Retinal detachment, Corneal dystrophy, Decreased... |
ORPHA:90354 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... |
OMIM:617315 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoglobus, Astigmatism, Abnormality of retinal pigmentation, Keratoconus, Retinal fold |
OMIM:108145 |
| Coloboma Of Optic Nerve |
|
Optic disc coloboma, Retinal detachment |
OMIM:120430 |
| Norrie Disease |
|
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hypoplasia of... |
OMIM:310600 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Abnormal optic disc morphology, Decreased corneal thickness, Congenital stationary night blindness |
ORPHA:293967 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Retinal degeneration |
ORPHA:542306 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
| Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Corneal neovascularizatio... |
OMIM:618175 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
| Angelman Syndrome |
|
Iris hypopigmentation, Astigmatism, Optic disc pallor, Keratoconus, Optic atrophy |
ORPHA:72 |
| Nail-Patella Syndrome |
|
Cataract, Lester's sign, Microphakia, Keratoconus, Microcornea, Antecubital pterygium |
OMIM:161200 |
| Alagille Syndrome |
|
Abnormal pupil morphology, Keratoconus, Corneal dystrophy |
ORPHA:52 |
| Gapo Syndrome |
|
Keratoconus, Optic atrophy |
ORPHA:2067 |
| Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis, Corneal ulceration, Recurrent corneal erosions, Limbal stem cell deficiency... |
ORPHA:2363 |
| Gapo Syndrome |
|
Megalocornea, Shallow anterior chamber, Keratoconus, Retinal arteriolar tortuosity, Optic atrophy |
OMIM:230740 |
| Costello Syndrome |
|
Keratoconus |
ORPHA:3071 |
| Arterial Tortuosity Syndrome |
|
Astigmatism, Keratoconus |
OMIM:208050 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Retinal detachment, Microcornea |
OMIM:225400 |
| Arterial Tortuosity Syndrome |
|
Keratoglobus, Keratoconus |
ORPHA:3342 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus |
OMIM:130050 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Keratoconus |
ORPHA:286 |
