Megalocornea |
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Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Corneal Dystrophy, Congenital Stromal |
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Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Keratoconus 9 |
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Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Keratoconus 1 |
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Keratoconus, Astigmatism |
OMIM:148300 |
Keratoconus 6 |
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Keratoconus |
OMIM:614623 |
Keratoconus 5 |
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Keratoconus |
OMIM:614622 |
Keratoconus 8 |
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Keratoconus |
OMIM:614628 |
Keratoconus 7 |
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Keratoconus |
OMIM:614629 |
Cornea Plana 2, Autosomal Recessive |
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Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Brittle Cornea Syndrome 2 |
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Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Leber Congenital Amaurosis 4 |
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Keratoconus, Optic disc pallor, Macular atrophy |
OMIM:604393 |
Leber Congenital Amaurosis 7 |
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Keratoconus, Cataract |
OMIM:613829 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Edict Syndrome |
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Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
Leber Congenital Amaurosis 6 |
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Keratoconus, Cataract |
OMIM:613826 |
Leber Congenital Amaurosis 2 |
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Keratoconus, Optic disc pallor, Cataract, Pigmentary retinopathy |
OMIM:204100 |
Leber Congenital Amaurosis |
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Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Brittle Cornea Syndrome 1 |
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Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
Leber Congenital Amaurosis 1 |
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Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen |
OMIM:204000 |
Leber Congenital Amaurosis 9 |
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Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Dermatitis, Atopic |
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Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Retinitis Pigmentosa |
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Keratoconus, Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:791 |
Keratoconus Posticus Circumscriptus |
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Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Brittle Cornea Syndrome |
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Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased... |
ORPHA:90354 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Arthrogryposis, Distal, Type 5 |
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Keratoconus, Abnormality of retinal pigmentation, Astigmatism, Keratoglobus |
OMIM:108145 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Abnormal optic disc morphology, Decreased corneal thickness |
ORPHA:293967 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Keratoconus |
OMIM:609438 |
Microtriplication 11Q24.1 |
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Keratoconus |
ORPHA:289522 |
Optic Atrophy-Intellectual Disability Syndrome |
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Keratoconus, Optic atrophy, Optic nerve hypoplasia |
ORPHA:401777 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Keratoconus, Retinal degeneration |
ORPHA:542306 |
Angelman Syndrome |
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Keratoconus, Optic disc pallor, Optic atrophy, Astigmatism, Iris hypopigmentation |
ORPHA:72 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Keratoconus, Conjunctivitis |
OMIM:242150 |
Nail-Patella Syndrome |
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Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
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 |
Pierson Syndrome |
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Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Alagille Syndrome |
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Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Gapo Syndrome |
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Keratoconus, Optic atrophy |
ORPHA:2067 |
Warburg-Cinotti Syndrome |
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Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
Lacrimoauriculodentodigital Syndrome |
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Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
Costello Syndrome |
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Keratoconus |
ORPHA:3071 |
Gapo Syndrome |
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Keratoconus, Shallow anterior chamber, Megalocornea, Optic atrophy |
OMIM:230740 |
Arterial Tortuosity Syndrome |
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Keratoconus, Astigmatism |
OMIM:208050 |
Arterial Tortuosity Syndrome |
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Keratoconus, Keratoglobus |
ORPHA:3342 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Microcornea, Retinal detachment, Keratoconus |
OMIM:225400 |
Atelis Syndrome 2 |
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Remnants of the hyaloid vascular system, Developmental cataract |
OMIM:620185 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corn... |
ORPHA:649 |
Full Nf2-Related Schwannomatosis |
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Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Neuroocular Syndrome |
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Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... |
OMIM:300166 |
Hypermobile Ehlers-Danlos Syndrome |
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Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus |
OMIM:130050 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Abnormal pupil morphology |
ORPHA:286 |