Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Retinitis Pigmentosa 42 |
|
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... |
OMIM:612943 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Optic atrophy, Developmental cataract |
ORPHA:2572 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Rod-cone dystrophy, Obesity |
OMIM:615995 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio |
OMIM:617272 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... |
ORPHA:279914 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy |
OMIM:165510 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Idiopathic Anterior Uveitis |
|
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... |
ORPHA:280914 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... |
OMIM:614292 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia, Progressive cataract, Developmental cataract |
OMIM:246000 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... |
OMIM:610256 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... |
OMIM:604393 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy |
OMIM:617087 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Knee flexion contracture, Optic atrophy, Ankle flexion contracture |
OMIM:615043 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... |
OMIM:251270 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... |
ORPHA:209959 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
Morm Syndrome |
|
Retinal atrophy, Cataract, Retinal dystrophy, Truncal obesity |
ORPHA:75858 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... |
OMIM:120200 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... |
OMIM:300476 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Peripheral Cone Dystrophy |
|
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy |
OMIM:609021 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Microspherophakia With Hernia |
|
Retinal detachment, Inguinal hernia, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Posterior synechiae of the anterior chamber, Developmental ca... |
OMIM:613154 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... |
ORPHA:137902 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Eales Disease |
|
Iris neovascularization, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, V... |
ORPHA:40923 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract |
OMIM:204200 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor |
OMIM:616171 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract, Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204000 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... |
OMIM:608553 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Autosomal Dominant Keratitis |
|
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Knee flexion contracture, Optic atrophy, Ankle flexion contracture, Flexion contracture of toe |
ORPHA:320396 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Retinal dystrophy, Optic atrophy |
OMIM:614706 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... |
ORPHA:91495 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Obesity, Retinal coloboma |
OMIM:601794 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Rod-cone dystrophy, Microcornea |
OMIM:619082 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Obesity, Retinal coloboma |
ORPHA:363741 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Sensory axonal neuropathy, Optic atrophy |
ORPHA:329314 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Coloboma, Small for gestational age, Failure to thrive, Cataract, Abnorm... |
ORPHA:1617 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... |
OMIM:600132 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Juvenile Glaucoma |
|
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... |
ORPHA:98977 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... |
OMIM:620102 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Retinitis Pigmentosa |
|
Optic atrophy, Obesity, Abnormality of retinal pigmentation, Cataract, Atypical scarring of skin,... |
ORPHA:791 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... |
ORPHA:67042 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
Merrf |
|
Multiple lipomas, Optic atrophy |
ORPHA:551 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:614296 |
Retinitis Pigmentosa 63 |
|
Rod-cone dystrophy, Optic disc pallor |
OMIM:614494 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia |
ORPHA:171844 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Retinitis Pigmentosa 26 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:608380 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Cataract, Optic disc pallor, Vaginal hernia |
ORPHA:3173 |
Kahrizi Syndrome |
|
Knee flexion contracture, Cataract, Iris coloboma, Elbow contracture |
OMIM:612713 |
Retinitis Pigmentosa 38 |
|
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy |
OMIM:613862 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Cofs Syndrome |
|
Camptodactyly of finger, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Arthrogryp... |
ORPHA:1466 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation ... |
OMIM:615233 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Night Blindness, Congenital Stationary, Type 1G |
|
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness |
OMIM:616389 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Cataract, Decreased nerve conduct... |
OMIM:612674 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Retinal degeneration, Optic atrophy |
OMIM:614322 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy |
ORPHA:1538 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Wildervanck Syndrome |
|
Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Cataract, Abnormality of retinal pigmentation |
ORPHA:3156 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Mucolipidosis Iv |
|
Retinal degeneration, Opacification of the corneal stroma, Corneal opacity, Optic atrophy |
OMIM:252650 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy |
OMIM:615434 |
Striatonigral Degeneration, Infantile |
|
Failure to thrive, Optic atrophy |
OMIM:271930 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:606068 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... |
OMIM:165550 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Retinitis Pigmentosa 74 |
|
Rod-cone dystrophy, Optic disc pallor, Posterior polar cataract, Obesity, Pigmentary retinopathy |
OMIM:616562 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract |
ORPHA:2278 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... |
OMIM:617123 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Flexion contracture, Optic atrophy |
OMIM:613162 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis |
ORPHA:1259 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Failure to thrive, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:617082 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy |
ORPHA:250984 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Flexion contracture... |
OMIM:609260 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Congenital Hydrocephalus |
|
Macular hypoplasia, Iris coloboma, Optic atrophy |
ORPHA:2185 |
Neurodegeneration With Brain Iron Accumulation |
|
Retinopathy, Optic atrophy |
ORPHA:385 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Papilledema |
OMIM:124950 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Coloboma, Optic atrophy |
OMIM:274270 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Joint contracture of the hand, Campt... |
OMIM:609033 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy |
OMIM:619389 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Optic atrophy |
ORPHA:431329 |
Pontocerebellar Hypoplasia, Type 1E |
|
Knee flexion contracture, Elbow flexion contracture, Optic atrophy |
OMIM:619303 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Inguinal hernia, Cataract, Decreased body weight |
OMIM:618392 |
Lissencephaly 5 |
|
Cataract, Optic atrophy |
OMIM:615191 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia, Cataract |
ORPHA:272 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Failure to thrive, Cataract, Chorioretinal coloboma |
ORPHA:163937 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Inguinal hernia, Cataract, Umbilical hernia |
ORPHA:1373 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Zika Virus Disease |
|
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... |
ORPHA:448237 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... |
OMIM:106210 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d... |
OMIM:152950 |
Retinitis Pigmentosa 78 |
|
Cystoid macular edema, Optic disc pallor |
OMIM:617433 |
Enhanced S-Cone Syndrome |
|
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy |
OMIM:268100 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Retinal dystrophy, Optic disc pallor |
OMIM:616079 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Optic atrophy |
OMIM:618768 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180100 |
Leukodystrophy, Hypomyelinating, 22 |
|
Astigmatism, Flexion contracture, Optic disc pallor |
OMIM:619328 |
Coats Disease |
|
Leukocoria, Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:614307 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Retinal degeneration, Macular degeneration, Flexion contracture, Optic atrophy |
OMIM:256730 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Optic disc pallor |
OMIM:613730 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... |
ORPHA:414 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pos... |
OMIM:300424 |
Congenital Varicella Syndrome |
|
Atypical scarring of skin, Cataract |
ORPHA:291 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... |
OMIM:616170 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology |
OMIM:604841 |
Developmental And Epileptic Encephalopathy 93 |
|
Iris coloboma, Optic atrophy |
OMIM:618012 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:248000 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... |
OMIM:300578 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Abnormal autonomic nervous system physiology, Cachexia, Abnormal cranial n... |
ORPHA:97229 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor |
OMIM:614504 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Joint contracture, Optic atrophy |
OMIM:617481 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Retinopathy, Abnormal chorioretinal morphology, Macular dystrophy |
ORPHA:225 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Stiff Skin Syndrome |
|
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Lipodystrophy, Cataract |
OMIM:184900 |
Tricho-Retino-Dento-Digital Syndrome |
|
Juvenile cataract, Abnormality of retinal pigmentation |
ORPHA:1264 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Optic atrophy |
OMIM:270800 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy |
OMIM:614879 |
Martsolf Syndrome 2 |
|
Camptodactyly of finger, Decreased body weight, Camptodactyly, Developmental cataract, Cataract |
OMIM:619420 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Macular edema, Weight loss, Anterior chamber flare, Posterior synechiae of t... |
ORPHA:91500 |
Infantile Refsum Disease |
|
Rod-cone dystrophy, Optic atrophy, Failure to thrive, Cataract, Facial palsy |
ORPHA:772 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Microcornea |
ORPHA:627 |
Neonatal Adrenoleukodystrophy |
|
Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Oculo-Palato-Cerebral Syndrome |
|
Leukocoria, Cataract, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Retinal dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:617547 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:600105 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Achondrogenesis Type 2 |
|
Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract |
ORPHA:93296 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... |
OMIM:268315 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Obesity, Abnormality of retinal pigmentation, Keloids |
ORPHA:3085 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Optic atrophy, Developmental cataract, Microcornea |
OMIM:600118 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Linear Verrucous Nevus Syndrome |
|
Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Leber Congenital Amaurosis 14 |
|
Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor |
OMIM:613341 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy |
OMIM:602271 |
Triple A Syndrome |
|
Iris coloboma, Optic atrophy, Motor axonal neuropathy |
ORPHA:869 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... |
ORPHA:54 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Srd5A3-Cdg |
|
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract |
ORPHA:324737 |
Lissencephaly 8 |
|
Cataract, Optic atrophy |
OMIM:617255 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Optic atrophy |
OMIM:618228 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Peripheral dysmyelination, Decreased nerve conduction velocity, Periph... |
ORPHA:101082 |
Prune1-Related Neurological Syndrome |
|
Cataract, Retinopathy, Optic atrophy |
ORPHA:544469 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Failure to thrive |
ORPHA:67048 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy |
OMIM:619527 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:616680 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Megalocornea, Coloboma, Optic atrophy, Optic nerve hypoplasia, Cataract, Retinal detachment, Abno... |
ORPHA:370959 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity |
ORPHA:98890 |
Harel-Yoon Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenuation of retina... |
OMIM:619260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Coloboma, Corneal opacity |
OMIM:613153 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... |
OMIM:604116 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy |
OMIM:619052 |
Microphthalmia, Syndromic 5 |
|
Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract |
OMIM:610125 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... |
OMIM:601552 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Optic atrophy |
ORPHA:1672 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Macular degeneration |
OMIM:619780 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Cataract 16, Multiple Types |
|
Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Cataract, Flexion contracture, Peripheral axonal neuro... |
OMIM:619851 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Microphthalmia With Brain And Digit Anomalies |
|
Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea |
ORPHA:139471 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Cataract, Coloboma, Optic atrophy |
OMIM:612379 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Failure to thrive, Optic atrophy |
OMIM:618229 |
Otodental Syndrome |
|
Retinal coloboma, Microcornea, Lens coloboma, Iris coloboma, Cataract, Abnormal dental enamel mor... |
ORPHA:2791 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Joubert Syndrome 9 |
|
Retinal dystrophy, Astigmatism, Cataract |
OMIM:612285 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Infantile Cerebellar-Retinal Degeneration |
|
Failure to thrive, Retinal dystrophy, Decreased body weight, Optic atrophy |
OMIM:614559 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy |
ORPHA:588 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Galactose Mutarotase Deficiency |
|
Failure to thrive, Cataract |
ORPHA:570422 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology |
ORPHA:2119 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Cataract, Macular degeneration |
ORPHA:284289 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Retinal dystrophy, Failure to thrive, Cataract, Peripheral demyelination |
OMIM:614877 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, Decrea... |
ORPHA:457205 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal dysplasia, Cataract, Peters anomaly, Remnants of the hyaloid vasc... |
OMIM:614643 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:613756 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Cataract, Peripheral axonal neuropathy, Corneal opacity |
ORPHA:496790 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:290 |
Aniridia-Absent Patella Syndrome |
|
Inguinal hernia, Cataract, Aniridia |
ORPHA:1069 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:619425 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Choroideremia |
OMIM:116600 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves,... |
ORPHA:88628 |
Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves... |
OMIM:613843 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enam... |
ORPHA:1873 |
4H Leukodystrophy |
|
Cataract, Optic atrophy |
ORPHA:289494 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Cataract |
ORPHA:1856 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy |
ORPHA:1914 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Shagreen patch, Retina... |
ORPHA:2969 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Failure to thrive, Optic atrophy |
OMIM:300475 |
Congenital Disorder Of Glycosylation, Type Id |
|
Flexion contracture, Optic atrophy, Joint contracture of the hand, Failure to thrive, Iris colobo... |
OMIM:601110 |
Achromatopsia 2 |
|
Peripapillary atrophy, Retinal thinning, Dull foveal reflex, Hypoplasia of the fovea, Myopic asti... |
OMIM:216900 |
Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Pigmentary retinopathy, Optic atrophy |
ORPHA:228346 |
Sturge-Weber Syndrome |
|
Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr... |
ORPHA:3205 |
Refsum Disease, Classic |
|
Retinal degeneration, Cataract, Rod-cone dystrophy |
OMIM:266500 |
Walker-Warburg Syndrome |
|
Optic atrophy, Retinal dystrophy, Abnormal optic nerve morphology, Microcornea, Retinal dysplasia... |
ORPHA:899 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Cataract, Flexion contracture, Coloboma |
OMIM:615249 |
Congenital Sialidosis Type 2 |
|
Cherry red spot of the macula, Optic atrophy, Developmental cataract, Inguinal hernia, Cataract, ... |
ORPHA:93400 |
Juvenile Sialidosis Type 2 |
|
Cherry red spot of the macula, Optic atrophy, Inguinal hernia, Cataract, Corneal opacity, Umbilic... |
ORPHA:93399 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Astigmatism, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Null Syndrome |
|
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... |
ORPHA:280234 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... |
ORPHA:585 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Cataract, Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2715 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy |
OMIM:616648 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Macular hypoplasia, Iris coloboma, Optic atrophy |
OMIM:615219 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Astigmatism, Temporal optic disc pallor |
ORPHA:459056 |
Distal Monosomy 13Q |
|
Iris coloboma, Optic atrophy |
ORPHA:1590 |
Microcephaly, Amish Type |
|
Failure to thrive, Hypoplasia of the fovea, Flexion contracture, Optic atrophy |
OMIM:607196 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Retinal detachment |
OMIM:219250 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Flexion contracture, Decreased body weight, Optic atrophy, Small for gestational age, Failure to ... |
OMIM:618346 |
Alg8-Cdg |
|
Retinopathy, Optic atrophy, Abnormality of subcutaneous fat tissue, Small for gestational age, Ca... |
ORPHA:79325 |
Amaurosis-Hypertrichosis Syndrome |
|
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy |
ORPHA:1021 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Flexion contracture, Zonular cataract, Optic nerve hypoplasia, Inguinal hernia, Cataract, Failure... |
OMIM:222765 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Cataract |
ORPHA:1366 |
Vici Syndrome |
|
Abnormal macular morphology, Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1493 |
Full Nf2-Related Schwannomatosis |
|
Bilateral vestibular schwannoma, Facial palsy, Retinal hamartoma, Epiretinal membrane, Posterior ... |
ORPHA:637 |
Canavan Disease |
|
Flexion contracture, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Enamel hypoplasia, Optic atrophy, Scarring alopecia of scalp, Astigmatism, Cataract, Ectopia pupi... |
OMIM:618727 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Astigmatism, Rod-cone dystrophy, Unilateral facial palsy, Optic atrophy |
OMIM:618547 |
Congenital Tufting Enteropathy |
|
Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive, Cataract, Optic disc coloboma |
ORPHA:92050 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight, Optic atrophy |
OMIM:614651 |
Wolfram Syndrome 1 |
|
Cataract, Pigmentary retinopathy, Optic atrophy |
OMIM:222300 |
Crouzon Syndrome |
|
Conjunctivitis, Iris coloboma, Optic atrophy |
ORPHA:207 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Trisomy 13 |
|
Hernia, Optic atrophy, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Abnormal retinal ... |
ORPHA:3378 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Optic nerve dysplasia, Joint contracture of the hand, Camptodactyly, Failure to... |
OMIM:214110 |
Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Retinal dystrophy, Congenital diaphragmatic hernia, Iris coloboma, Catara... |
OMIM:222448 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia of the ir... |
ORPHA:3163 |
Warburg Micro Syndrome 3 |
|
Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber... |
OMIM:614222 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Opto-chiasmatic atrophy, Optic atrophy |
OMIM:620089 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Motor axonal neuropathy, Optic atrophy, Sensory axonal neuropathy, Optic dis... |
OMIM:609541 |
Norrie Disease |
|
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Cac... |
ORPHA:649 |
Warburg Micro Syndrome 2 |
|
Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, Cataract |
OMIM:614225 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a... |
ORPHA:1215 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy |
OMIM:610651 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Optic disc pallor, Corneal opacity |
ORPHA:309288 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cataract, Morning glory anomaly, Temporal optic disc pallor, Optic atrophy |
ORPHA:98673 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract |
ORPHA:3301 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Multiple joint contractures, Optic atroph... |
ORPHA:320406 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Axial Spondylometaphyseal Dysplasia |
|
Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy, Retinal dystrophy, Cataract |
ORPHA:168549 |
Warburg Micro Syndrome 4 |
|
Flexion contracture, Optic atrophy, Decreased motor nerve conduction velocity, Developmental cata... |
OMIM:615663 |
Hermansky-Pudlak Syndrome 8 |
|
Iris transillumination defect, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides... |
OMIM:614077 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Optic atrophy, Facial palsy |
OMIM:615085 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Choroideremia, Microcornea, Chorioretinal dystrophy, Failure to thrive, Abnormal o... |
ORPHA:2707 |
Leber Optic Atrophy |
|
Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy |
OMIM:535000 |
Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microcornea, Cataract, Retinal coloboma |
ORPHA:2510 |
Phace Association |
|
Horner syndrome, Optic atrophy, Developmental cataract, Optic nerve hypoplasia, Increased retinal... |
OMIM:606519 |
Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Optic atrophy, Abnormal chorioretinal morphology, Failur... |
ORPHA:912 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia |
ORPHA:1528 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Optic atrophy, Corneal scarring, Cachexia, Attenuation of retinal blood vessel... |
OMIM:610965 |
Papillorenal Syndrome |
|
Morning glory anomaly, Lens luxation, Macular degeneration, Cataract, Chorioretinal atrophy, Macu... |
OMIM:120330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Buphthalmos, Cata... |
OMIM:236670 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, ... |
OMIM:243605 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste... |
OMIM:231550 |
Halperin-Birk Syndrome |
|
Flexion contracture, Optic atrophy, Developmental cataract, Inguinal hernia, Congenital diaphragm... |
OMIM:618651 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Pigmentary retinopathy |
ORPHA:79095 |
Stt3B-Cdg |
|
Failure to thrive, Optic atrophy |
ORPHA:370924 |