Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Edict Syndrome |
|
Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... |
ORPHA:324416 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cataract, Retinal dystrophy |
OMIM:615995 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea |
OMIM:251750 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Rod-cone dystrophy |
ORPHA:363741 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation |
ORPHA:85194 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Myopia 17, Autosomal Dominant |
|
Retinal hole, Presenile cataracts |
OMIM:608367 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... |
OMIM:616171 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Developmental cataract |
OMIM:246000 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Peroxisome Biogenesis Disorder 2B |
|
Polar cataract |
OMIM:202370 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... |
OMIM:120200 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Retinal detachment, Cataract |
ORPHA:627 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Cofs Syndrome |
|
Optic atrophy, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:1466 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B... |
OMIM:221900 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma |
ORPHA:1617 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cataract, Optic nerve hypoplasia, Retinal dystrophy, Microcornea, Coloboma, Microph... |
OMIM:610125 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy, Coloboma |
OMIM:274270 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract |
OMIM:616562 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... |
ORPHA:139471 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract, Optic disc pallor |
OMIM:613730 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Xp22.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma |
ORPHA:1643 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract |
OMIM:117300 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Retinal dystrophy, Developmental cataract |
OMIM:613155 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy |
OMIM:617255 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia, Coloboma |
OMIM:615665 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity |
ORPHA:290 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia |
OMIM:613153 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... |
OMIM:602499 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... |
ORPHA:2788 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Warburg Micro Syndrome 1 |
|
Microcornea, Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:600118 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration |
OMIM:615249 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma |
ORPHA:141333 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Alport Syndrome 3A, Autosomal Dominant |
|
Anterior polar cataract, Lenticonus |
OMIM:104200 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610756 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity |
ORPHA:1794 |
Temtamy Syndrome |
|
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:218340 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Corneal opacity, Cataract, Chorioretinal dysplasia, Retinal dys... |
ORPHA:899 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya... |
OMIM:609049 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract, Optic atrophy, Coloboma |
OMIM:612379 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia |
ORPHA:2399 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Microphthalmia, Cataract, Iris transillumination defect |
OMIM:617306 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract |
OMIM:250420 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness |
ORPHA:90354 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia |
ORPHA:496790 |
Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon |
OMIM:619194 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Mend Syndrome |
|
Anterior polar cataract, Macular hypoplasia, Cataract |
OMIM:300960 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy |
OMIM:616538 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity |
ORPHA:61 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract, Retinal pigment epithelial mottling |
OMIM:614105 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Coloboma, Peters anomaly |
OMIM:618652 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Mic... |
ORPHA:42775 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Posterior polar cataract, Optic disc hypoplasia |
ORPHA:261584 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea |
ORPHA:77298 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Refsum Disease |
|
Retinopathy, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:773 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Microphthalmia, Cataract, Hypopigmentation of the fundus |
ORPHA:163649 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:614219 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Phthisis bulbi, Flat cornea |
OMIM:618283 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:136760 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Warburg Micro Syndrome 2 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia |
OMIM:614225 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Anterior polar cataract |
OMIM:619575 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
OMIM:602342 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Warburg Micro Syndrome 3 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth... |
OMIM:614222 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Trisomy 13 |
|
Anophthalmia, Cataract, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia o... |
ORPHA:3378 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Optic atrophy, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:3301 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Micr... |
ORPHA:2510 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
Warburg Micro Syndrome 4 |
|
Microcornea, Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:615663 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... |
OMIM:243605 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity |
ORPHA:309288 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Bresek Syndrome |
|
Microphthalmia, Iris coloboma, Optic nerve hypoplasia |
ORPHA:85284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:858 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic... |
OMIM:606519 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity |
ORPHA:812 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Iris coloboma |
OMIM:244300 |
Weill-Marchesani Syndrome 1 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract |
OMIM:277600 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia, Coloboma |
OMIM:167730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Optic atr... |
OMIM:236670 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Microphthalmia, Papilledema, Developmental cataract |
OMIM:127000 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness |
ORPHA:293967 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Phacoanaphylactic Uveitis |
|
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal... |
ORPHA:209959 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma |
OMIM:614583 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Retinopathy |
ORPHA:2505 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge... |
OMIM:614195 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Hepatic Lipase Deficiency |
|
Corneal arcus |
OMIM:614025 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Developmental cataract |
ORPHA:335 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
Microphthalmia, Lenz Type |
|
Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:568 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy |
OMIM:234050 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Sanjad-Sakati Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity, Astigmatism |
ORPHA:2323 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Aplasia/Hypoplasia affecting the eye, Iris hypopigmen... |
ORPHA:2719 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:214150 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:243310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia |
OMIM:253800 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... |
OMIM:107320 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cyclopia, Anophthalmia, Coloboma |
OMIM:147250 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract |
ORPHA:912 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cataract, Pigmentary retinopathy, Sclerocornea |
OMIM:614230 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... |
OMIM:259770 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
Cystinosis |
|
Corneal opacity |
ORPHA:213 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Sclerocornea |
OMIM:300952 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Corneal opacity, Optic nerve hypoplasia |
OMIM:301056 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma |
OMIM:309801 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Retinal vascular proliferation,... |
OMIM:308300 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
OMIM:607015 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Frontorhiny |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:391474 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Astigmatism, Optic nerve hypoplasia |
OMIM:609053 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr... |
OMIM:206900 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... |
ORPHA:2526 |
Marfan Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the gl... |
OMIM:154700 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma |
OMIM:611961 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Joubert Syndrome 14 |
|
Microphthalmia, Morning glory anomaly, Optic atrophy, Coloboma |
OMIM:614424 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Cataract |
ORPHA:2250 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616449 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
Atelis Syndrome 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Developmental cataract |
OMIM:620185 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
Pelvis-Shoulder Dysplasia |
|
Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma |
ORPHA:2839 |
Trichothiodystrophy 1, Photosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract |
OMIM:601675 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma |
ORPHA:2092 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Keratitis, Reti... |
ORPHA:464 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... |
OMIM:612582 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Retinoblastoma, Iris coloboma |
ORPHA:1587 |
Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
Vacterl With Hydrocephalus |
|
Microcornea, Microphthalmia, Anophthalmia, Abnormal optic nerve morphology |
ORPHA:3412 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:607323 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Fryns Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2059 |
Meckel Syndrome |
|
Anophthalmia, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Aplasia/H... |
ORPHA:564 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy |
OMIM:201180 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:268249 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia |
OMIM:251300 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Microphthalmia, Iris... |
ORPHA:193 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity |
OMIM:601812 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Costello Syndrome |
|
Keratoconus |
ORPHA:3071 |
Mosaic Trisomy 9 |
|
Microphthalmia, Corneal opacity |
ORPHA:99776 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Microcornea,... |
ORPHA:90324 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
Martsolf Syndrome 1 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:212720 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract |
ORPHA:65286 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3380 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea... |
ORPHA:141099 |
Gm1 Gangliosidosis |
|
Corneal opacity |
ORPHA:354 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Monosomy 9Q22.3 |
|
Microphthalmia, Cataract, Retinopathy |
ORPHA:77301 |
Adams-Oliver Syndrome |
|
Microphthalmia, Cataract |
ORPHA:974 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity |
ORPHA:1830 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Angelman Syndrome |
|
Keratoconus, Astigmatism, Iris hypopigmentation |
ORPHA:72 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis |
OMIM:158310 |
Hurler Syndrome |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:607014 |
Jacobsen Syndrome |
|
Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris colo... |
OMIM:147791 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Cataract, Corneal opacity |
ORPHA:1052 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micropht... |
OMIM:304050 |
Cat Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:250989 |
Gapo Syndrome |
|
Keratoconus |
ORPHA:2067 |
Joubert Syndrome 2 |
|
Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma |
OMIM:608091 |
Primrose Syndrome |
|
Posterior polar cataract |
OMIM:259050 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Iris coloboma, Unilateral microphthalmos |
OMIM:618874 |
De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystro... |
ORPHA:191 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Hallermann-Streiff Syndrome |
|
Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:234100 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Buphthalmos, Keratoconjunctivitis sicca |
ORPHA:495875 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:2612 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity |
OMIM:253220 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Megalocornea, Rod-cone dystrophy, Iris coloboma |
OMIM:223370 |
Gapo Syndrome |
|
Keratoconus, Shallow anterior chamber, Megalocornea |
OMIM:230740 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Astigmatism |
OMIM:208050 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma |
ORPHA:251014 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Abnormal retinal morphology |
OMIM:610758 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle... |
ORPHA:2556 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Developmental cataract |
ORPHA:464738 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1236 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity |
ORPHA:579 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cataract, Coloboma |
OMIM:603457 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Mosaic Trisomy 1 |
|
Microphthalmia, Opacification of the corneal stroma |
ORPHA:1692 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microcornea, Microphthalmia, Cataract, Zonular cataract |
OMIM:268400 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Alpha-Mannosidosis, Infantile Form |
|
Astigmatism, Corneal opacity, Cataract |
ORPHA:309282 |
Hurler Syndrome |
|
Corneal opacity |
ORPHA:93473 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Retinoblastoma, Iris coloboma, Chorioretinal coloboma |
OMIM:613884 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Megalocornea, Iris coloboma |
ORPHA:536471 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity |
ORPHA:488632 |
Cockayne Syndrome B |
|
Optic atrophy, Developmental cataract, Hypoplasia of the iris, Microcornea, Pigmentary retinopath... |
OMIM:133540 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus |
ORPHA:3342 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract |
OMIM:164200 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Developmental cataract, Microcornea, Macular degeneration, Keratoconjun... |
ORPHA:33364 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Corneal opacity |
OMIM:608670 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy |
ORPHA:324 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Opacification of the corneal stroma |
ORPHA:581 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
Holoprosencephaly |
|
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Cyclopia, Retinopathy, Iris ... |
ORPHA:2162 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma, Microphthalmi... |
ORPHA:508498 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:273395 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia |
ORPHA:534 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Develo... |
OMIM:300166 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Optic atrophy, Coloboma, Peters anomaly |
OMIM:616975 |
Carpenter Syndrome 1 |
|
Microcornea, Opacification of the corneal stroma |
OMIM:201000 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
Schimke Immunoosseous Dysplasia |
|
Astigmatism, Opacification of the corneal stroma |
OMIM:242900 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Corneal opacity |
OMIM:615273 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Cyclopia |
OMIM:264480 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Microcornea, Keratoconus |
OMIM:225400 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity |
OMIM:253200 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
Mend Syndrome |
|
Microphthalmia, Cataract |
ORPHA:401973 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Oculoectodermal Syndrome |
|
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma |
OMIM:600268 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Developmental cataract |
ORPHA:2108 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... |
OMIM:263650 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Chime Syndrome |
|
Corneal opacity |
ORPHA:3474 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... |
OMIM:157170 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Bilateral microphthalmos |
OMIM:219000 |
Treacher-Collins Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:861 |
Neurofibromatosis Type 1 |
|
Corneal opacity, Cataract, Heterochromia iridis, Lisch nodules |
ORPHA:636 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Corneal opacity |
ORPHA:2908 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cataract |
OMIM:620005 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Developmental cataract |
ORPHA:90348 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract |
OMIM:309000 |
Roberts Syndrome |
|
Microphthalmia, Cataract |
ORPHA:3103 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae |
ORPHA:709 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium |
ORPHA:910 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Coloboma, Microphthalmia |
OMIM:607932 |
Smith-Lemli-Opitz Syndrome |
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Aplasia/Hypoplasia affecting the eye, Iris coloboma, Sclerocornea, Cataract |
ORPHA:818 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Microcornea, Microphthalmia |
OMIM:616734 |
Frontonasal Dysplasia 2 |
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Microphthalmia |
OMIM:613451 |
Microcephaly-Micromelia Syndrome |
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Microphthalmia |
OMIM:251230 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis |
ORPHA:2273 |
Van Den Ende-Gupta Syndrome |
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Sclerocornea |
OMIM:600920 |
Mowat-Wilson Syndrome |
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Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:235730 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Microphthalmia, Cyclopia |
ORPHA:2166 |
Focal Dermal Hypoplasia |
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Anophthalmia, Ectopia lentis, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia, Ir... |
OMIM:305600 |
Holoprosencephaly 7 |
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Microphthalmia, Bilateral microphthalmos, Iris coloboma |
OMIM:610828 |
22Q11.2 Deletion Syndrome |
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Cataract, Retinal arteriolar tortuosity, Optic atrophy, Microphthalmia, Posterior embryotoxon, Co... |
ORPHA:567 |
Lathosterolosis |
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Cataract, Opacification of the corneal stroma |
OMIM:607330 |
Mucopolysaccharidosis Type 2, Severe Form |
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Corneal opacity |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
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Corneal opacity |
ORPHA:580 |
Fanconi Anemia |
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Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract |
ORPHA:84 |
Renpenning Syndrome 1 |
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Microphthalmia, Cataract, Coloboma |
OMIM:309500 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Corneal opacity |
ORPHA:217093 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Microphthalmia, Optic disc coloboma, Iris coloboma |
OMIM:620186 |
Fryns Syndrome |
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Microphthalmia, Opacification of the corneal stroma |
OMIM:229850 |
Gaucher Disease |
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Corneal opacity |
ORPHA:355 |
Myhre Syndrome |
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Microphthalmia, Cataract |
OMIM:139210 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Corneal opacity |
ORPHA:2072 |
Wilson Disease |
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Kayser-Fleischer ring |
OMIM:277900 |
Yunis-Varon Syndrome |
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Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract |
ORPHA:3472 |
Galloway-Mowat Syndrome 3 |
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Microphthalmia |
OMIM:617729 |
Wolf-Hirschhorn Syndrome |
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Megalocornea, Iris coloboma, Sclerocornea |
ORPHA:280 |
Charge Syndrome |
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Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:138 |
Fanconi Anemia, Complementation Group F |
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Microphthalmia |
OMIM:603467 |
Meckel Syndrome 14 |
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Microphthalmia |
OMIM:619879 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Ohdo Syndrome, X-Linked |
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Microphthalmia |
OMIM:300895 |
Williams Syndrome |
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Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea... |
ORPHA:904 |
Hereditary Acrokeratotic Poikiloderma |
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Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Roberts-Sc Phocomelia Syndrome |
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Microphthalmia, Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
Stuve-Wiedemann Syndrome 1 |
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Opacification of the corneal stroma |
OMIM:601559 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia |
OMIM:600901 |
Osteogenesis Imperfecta |
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Corneal opacity |
ORPHA:666 |
Charge Syndrome |
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Anophthalmia, Cataract, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia, Ir... |
OMIM:214800 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia |
OMIM:227650 |
Branchiooculofacial Syndrome |
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Anophthalmia, Cataract, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:113620 |
Teebi-Shaltout Syndrome |
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Microphthalmia |
OMIM:272950 |
Townes-Brocks Syndrome |
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Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:857 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Optic atrophy, True anophthalmia |
ORPHA:1106 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Mucolipidosis Ii Alpha/Beta |
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Megalocornea, Opacification of the corneal stroma |
OMIM:252500 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Microphthalmia |
OMIM:616300 |
Wiedemann-Rautenstrauch Syndrome |
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Cataract, Optic disc hypoplasia, Corneal opacity |
ORPHA:3455 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Popliteal pterygium, Microphthalmia, Antecubital pterygium |
OMIM:609945 |
Hutchinson-Gilford Progeria Syndrome |
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Corneal ulceration, Corneal opacity |
ORPHA:740 |
Neu-Laxova Syndrome 1 |
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Microphthalmia, Pterygium, Cataract |
OMIM:256520 |
Fanconi Anemia, Complementation Group C |
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Microphthalmia |
OMIM:227645 |
Meckel Syndrome, Type 1 |
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Microphthalmia, Iris coloboma |
OMIM:249000 |
Pallister-Hall Syndrome |
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Microphthalmia |
OMIM:146510 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood... |
ORPHA:468631 |
Cockayne Syndrome A |
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Cataract, Opacification of the corneal stroma |
OMIM:216400 |
Holoprosencephaly 1 |
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Microphthalmia, Cyclopia |
OMIM:236100 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia |
OMIM:614083 |
Fraser Syndrome 2 |
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Microphthalmia |
OMIM:617666 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi... |
OMIM:309800 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2538 |
Fanconi Anemia, Complementation Group D2 |
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Microphthalmia |
OMIM:227646 |
Hypermobile Ehlers-Danlos Syndrome |
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Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Microphthalmia |
OMIM:617925 |
Witteveen-Kolk Syndrome |
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Anisocoria, Microphthalmia, Cataract, Iris coloboma |
OMIM:613406 |
Monosomy 9P |
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Microphthalmia |
ORPHA:261112 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Opacification of the corneal stroma |
OMIM:615287 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Iris atrophy, Cataract, Abnormal pupil morphology, Optic atrophy, Microcornea, Ectopia pupillae, ... |
ORPHA:261552 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus |
OMIM:130050 |
Digeorge Syndrome |
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Posterior embryotoxon, Sclerocornea |
OMIM:188400 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma |
ORPHA:261537 |
Degcags Syndrome |
|
Microphthalmia |
OMIM:619488 |
8Q24.3 Microdeletion Syndrome |
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Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
Mowat-Wilson Syndrome |
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Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma |
ORPHA:2152 |
Fontaine Progeroid Syndrome |
|
Microphthalmia |
OMIM:612289 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... |
OMIM:308205 |
Adams-Oliver Syndrome 1 |
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Microphthalmia |
OMIM:100300 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology |
ORPHA:286 |
Fraser Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2052 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
OMIM:216340 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia |
OMIM:236680 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
Craniofacial Microsomia 1 |
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Limbal dermoid, Microphthalmia, Anophthalmia |
OMIM:164210 |