Eye diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Eye diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Eye diseases

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Abetalipoproteinemia 
Ablepharon macrostomia syndrome 
Aceruloplasminemia 
Achromatopsia 2 
Achromatopsia 3 
Acute intermittent porphyria 
Acute posterior multifocal placoid pigment epitheliopathy 
Acute zonal occult outer retinopathy 
ADULT syndrome 
Adult-onset vitelliform macular dystrophy 
Aicardi syndrome 
Aicardi-Goutieres syndrome 
Aland island eye disease 
Albinism ocular late onset sensorineural deafness 
Alexander disease 
Alkaptonuria 
Alpha-mannosidosis 
Alport syndrome 
Alström syndrome 
Ambras syndrome 
Amyloidosis corneal 
Aniridia 
Aniridia absent patella 
Aniridia renal agenesis psychomotor retardation 
Ankyloblepharon filiforme imperforate anus 
Anterior ischemic optic neuropathy 
Anterior segment dysgenesis 
Anterior uveitis 
Apert syndrome 
Aromatic L-amino acid decarboxylase deficiency 
Arthrogryposis renal dysfunction cholestasis syndrome 
Ataxia telangiectasia 
Ataxia with oculomotor apraxia type 1 
Ataxia with Oculomotor Apraxia Type 2 
Ataxia with oculomotor apraxia type 4 
Ataxia with vitamin E deficiency 
Ausems Wittebol-Post Hennekam syndrome 
Autosomal dominant leukodystrophy with autonomic disease 
Autosomal dominant optic atrophy and cataract 
Autosomal dominant optic atrophy plus syndrome 
Autosomal dominant vitreoretinochoroidopathy 
Autosomal recessive Alport syndrome 
Autosomal recessive bestrophinopathy 
Autosomal recessive primary microcephaly 
Axenfeld-Rieger syndrome 
Ayazi syndrome 
Barber Say syndrome 
Bardet-Biedl syndrome 
Bardet-Biedl syndrome 1 
Bardet-Biedl syndrome 10 
Bardet-Biedl syndrome 11 
Bardet-Biedl syndrome 12 
Bardet-Biedl syndrome 2 
Barth syndrome 
Bazex-Dupre-Christol syndrome 
Behçet disease 
Behr syndrome 
Best vitelliform macular dystrophy 
Bietti crystalline corneoretinal dystrophy 
Birdshot chorioretinopathy 
Blau syndrome 
Blepharophimosis with ptosis, syndactyly, and short stature 
Blepharoptosis myopia ectopia lentis 
Bloom syndrome 
Blue cone monochromatism 
Borjeson-Forssman-Lehmann syndrome 
Bradyopsia 
Brittle cornea syndrome 
Brown syndrome 
CADASIL 
Carney complex 
Cat eye syndrome 
Cataract congenital Volkmann type 
Cataract Hutterite type 
Cataract microcornea syndrome 
Cataract, posterior polar, 1 
Cataract, posterior polar, 3 
Cataract, posterior polar, 4 
Cataract, posterior polar, 5 
Cataract, total congenital 
Centronuclear myopathy 
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 
Cerebro-oculo-facio-skeletal syndrome 
Cerebrotendinous xanthomatosis 
Cerulean cataract 
Chanarin-Dorfman syndrome 
Chandler's syndrome 
Char syndrome 
CHARGE syndrome 
Charles Bonnet syndrome 
Chediak-Higashi syndrome 
Chorioretinitis 
Choroidal dystrophy central areolar 
Choroideremia 
Chromosome 17q11.2 deletion syndrome 
Chromosome 18p deletion 
Chromosome 21q deletion 
Chromosome 2q24 microdeletion syndrome 
Chromosome 5p duplication 
Chronic granulomatous disease 
Chronic progressive external ophthalmoplegia 
Coats disease 
Cockayne syndrome type I 
Cockayne syndrome type II 
Cockayne syndrome type III 
Cogan-Reese syndrome 
Cohen syndrome 
Coloboma of macula 
Coloboma of macula with type B brachydactyly 
Cone dystrophy 
Cone dystrophy X-linked with tapetal-like sheen 
Cone-rod dystrophy 
Cone-rod dystrophy 1 
Cone-rod dystrophy 2 
Cone-rod dystrophy 3 
Cone-rod dystrophy 5 
Cone-rod dystrophy 6 
Cone-rod dystrophy X-linked 1 
Cone-rod dystrophy X-linked 2 
Cone-rod dystrophy X-linked 3 
Congenital cystic eye 
Congenital disorders of glycosylation 
Congenital fibrosis of extraocular muscles 
Congenital microcoria 
Congenital myasthenic syndrome with episodic apnea 
Congenital primary aphakia 
Corneal dystrophy and perceptive deafness 
Corneal dystrophy Avellino type 
Corneal dystrophy crystalline of Schnyder 
Corneal dystrophy of Bowman layer type 1 
Corneal dystrophy Thiel Behnke type 
Corneal endothelial dystrophy type 2 
Corneal hypesthesia, familial 
Cornelia de Lange syndrome 
Corneodermatoosseous syndrome 
Cortical blindness-intellectual disability-polydactyly syndrome 
Cri du chat syndrome 
Crouzon syndrome 
Cystinosis 
Deafness and myopia syndrome 
Dentatorubral-pallidoluysian atrophy 
Dermochondrocorneal dystrophy of François 
Dermoids of cornea 
Developmental prosopagnosia 
Dopamine beta hydroxylase deficiency 
Doyne honeycomb retinal dystrophy 
Duane syndrome 
Duane syndrome type 1 
Duane syndrome type 2 
Duane syndrome type 3 
Dubowitz syndrome 
Duchenne muscular dystrophy 
Dyskeratosis congenita 
Dyskeratosis congenita autosomal dominant 
Dyskeratosis congenita autosomal recessive 
Dyskeratosis congenita X-linked 
Dyssegmental dysplasia and glaucoma 
Eales disease 
Early-onset anterior polar cataract 
Early-onset zonular cataract 
Ectodermal dysplasia skin fragility syndrome 
Ectopia lentis, isolated autosomal recessive 
Ectropion inferior cleft lip and or palate 
EEC syndrome 
EEM syndrome 
Enthesitis-related juvenile idiopathic arthritis 
Epidermolysa bullosa simplex with muscular dystrophy 
Epithelial basement membrane corneal dystrophy 
Fabry disease 
Familial amyloidosis, Finnish type 
Familial congenital palsy of trochlear nerve 
Familial cylindromatosis 
Familial dysautonomia 
Familial exudative vitreoretinopathy 
Familial LCAT deficiency 
Familial visceral myopathy with external ophthalmoplegia 
Farber's disease 
Fatty acid hydroxylase-associated neurodegeneration 
Fine-Lubinsky syndrome 
Fish-eye disease 
Focal dermal hypoplasia 
Fragile X syndrome 
Fraser syndrome 
Friedreich ataxia 
Frontofacionasal dysplasia 
Fuchs endothelial corneal dystrophy - Not a rare disease 
Fuchs heterochromic iridocyclitis 
Fukuyama type muscular dystrophy 
Fundus dystrophy, pseudoinflammatory, of Sorsby 
Galactokinase deficiency 
Galactosialidosis 
GAPO syndrome 
Gardner syndrome 
Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease 
Gaucher disease type 1 
Gaucher disease type 2 
Gaucher disease type 3 
Gillespie syndrome 
Glaucoma sleep apnea 
Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome 
GM1 gangliosidosis type 1 
GM1 gangliosidosis type 2 
GM1 gangliosidosis type 3 
GMS syndrome 
Goldberg-Shprintzen megacolon syndrome 
Goldenhar disease 
Goldmann-Favre syndrome 
Graham-Cox syndrome 
Griscelli syndrome type 1 
Griscelli syndrome type 2 
Griscelli syndrome type 3 
Groenouw type I corneal dystrophy 
Gyrate atrophy of choroid and retina 
Hallermann-Streiff syndrome 
Hay-Wells syndrome 
Hereditary endotheliopathy, retinopathy, nephropathy, and stroke 
Hereditary hemorrhagic telangiectasia 
Hereditary hemorrhagic telangiectasia type 2 
Hereditary hemorrhagic telangiectasia type 3 
Hereditary hemorrhagic telangiectasia type 4 
Hereditary vascular retinopathy 
Hermansky Pudlak syndrome 2 
Homocystinuria due to CBS deficiency 
Horizontal gaze palsy with progressive scoliosis 
Hurler syndrome 
Hurler–Scheie syndrome 
Hyperferritinemia cataract syndrome 
Hypohidrotic ectodermal dysplasia autosomal recessive 
Hypomelanosis of Ito 
Hypomyelination and congenital cataract 
Hypoparathyroidism familial isolated 
Ichthyosis lamellar 1 
Ichthyosis lamellar, autosomal dominant 
Incontinentia pigmenti 
Infantile cerebellar retinal degeneration 
Intraocular melanoma 
IRVAN syndrome 
Isolated congenital megalocornea 
Isolated ectopia lentis 
Jacobsen syndrome 
Joubert syndrome with oculorenal anomalies 
Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa 
Juvenile polyposis syndrome 
Juvenile retinoschisis 
Kabuki syndrome 
Kaufman oculocerebrofacial syndrome 
Kearns-Sayre syndrome 
Keratitis, hereditary 
Keratoconjunctivitis sicca - Not a rare disease 
Keratoconus 
Keratosis follicularis spinulosa decalvans 
KID syndrome 
Knobloch syndrome 
Krabbe disease 
Kyphoscoliotic Ehlers-Danlos syndrome 
Lacrimo-auriculo-dento-digital syndrome 
Lamellar ichthyosis 
Landau-Kleffner syndrome 
Laryngoonychocutaneous syndrome - See Epidermolysis bullosa 
Late-onset retinal degeneration 
Lattice corneal dystrophy type 1 
Lattice corneal dystrophy type 3A 
Laurence-Moon syndrome 
LCHAD deficiency 
Leber congenital amaurosis 
Leber congenital amaurosis 1 - See Leber congenital amaurosis 
Leber congenital amaurosis 10 - See Leber congenital amaurosis 
Leber congenital amaurosis 11 - See Leber congenital amaurosis 
Leber congenital amaurosis 12 - See Leber congenital amaurosis 
Leber congenital amaurosis 13 - See Leber congenital amaurosis 
Leber congenital amaurosis 14 - See Leber congenital amaurosis 
Leber congenital amaurosis 15 - See Leber congenital amaurosis 
Leber congenital amaurosis 16 - See Leber congenital amaurosis 
Leber congenital amaurosis 2 - See Leber congenital amaurosis 
Leber congenital amaurosis 3 - See Leber congenital amaurosis 
Leber congenital amaurosis 4 - See Leber congenital amaurosis 
Leber congenital amaurosis 6 - See Leber congenital amaurosis 
Leber congenital amaurosis 9 - See Leber congenital amaurosis 
Leber hereditary optic neuropathy 
Leber hereditary optic neuropathy with dystonia 
Leigh syndrome, French Canadian type 
Lenz microphthalmia syndrome 
LEOPARD syndrome 
Leukodystrophy 
Ligneous conjunctivitis 
Limb-mammary syndrome 
Linear nevus sebaceous syndrome 
Lowe oculocerebrorenal syndrome 
Lowry Maclean syndrome 
Lubinsky syndrome 
Lymphedema-distichiasis syndrome 
Macrosomia with lethal microphthalmia 
Macular dystrophy, corneal type 1 
Macular telangiectasia type 2 - Not a rare disease 
Marfan syndrome 
Marinesco-Sjogren syndrome 
Marshall syndrome 
Martsolf syndrome 
Maternally inherited diabetes and deafness 
Meckel syndrome 
Meesmann corneal dystrophy 
Megalocornea - spherophakia - secondary glaucoma 
Megalocornea-intellectual disability syndrome 
Melnick-Needles syndrome 
Menkes disease 
Methylmalonic acidemia with homocystinuria type cblC 
Mevalonic aciduria 
Micro syndrome 
Microcephaly microcornea syndrome Seemanova type 
Microcornea posterior megalolenticonus persistent fetal vasculature coloboma 
Microcornea corectopia macular hypoplasia 
Microphthalmia syndromic 10 
Microphthalmia syndromic 4 
Microphthalmia syndromic 5 
Microphthalmia syndromic 6 
Microphthalmia syndromic 8 
Microphthalmia syndromic 9 
Microphthalmia with linear skin defects syndrome 
Microspherophakia with hernia 
Microtia eye coloboma and imperforation of the nasolacrimal duct 
Miller syndrome 
Milroy disease 
Mitochondrial DNA-associated Leigh syndrome 
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 
Mitochondrial Membrane Protein-Associated Neurodegeneration 
Mitochondrial neurogastrointestinal encephalopathy syndrome 
Moebius syndrome 
Mohr-Tranebjaerg syndrome 
Molybdenum cofactor deficiency 
Morning glory syndrome 
Mousa Al din Al Nassar syndrome 
Mucolipidosis type 4 
Mucopolysaccharidosis type III 
Mucopolysaccharidosis type IIIA 
Mucopolysaccharidosis type IIIB 
Mucopolysaccharidosis type IIIC 
Mucopolysaccharidosis type IIID 
Mucopolysaccharidosis type IV 
Mucopolysaccharidosis type IVA 
Mucopolysaccharidosis type VII 
Muir-Torre syndrome 
Multiple familial trichoepithelioma 
Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma 
Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma 
Muscle eye brain disease 
Myoclonic epilepsy with ragged red fibers 
Myotonic dystrophy type 1 
Myotonic dystrophy type 2 
Nager acrofacial dysostosis 
Nail-patella syndrome 
Nance-Horan syndrome 
Nathalie syndrome 
Neonatal adrenoleukodystrophy 
Neonatal Onset Multisystem Inflammatory disease 
Neonatal progeroid syndrome 
Netherton syndrome 
Neurofibromatosis type 2 
Neuromyelitis optica 
Neuronal ceroid lipofuscinosis 
Neuronal ceroid lipofuscinosis 10 
Neuronal ceroid lipofuscinosis 5 
Neuronal ceroid lipofuscinosis 6 
Neuronal ceroid lipofuscinosis 7 
Neuropathy ataxia retinitis pigmentosa syndrome 
Nevoid basal cell carcinoma syndrome 
Niemann-Pick disease type A 
Niemann-Pick disease type C1 
Niemann-Pick disease type C2 
Noonan syndrome 
Noonan syndrome 1 - See Noonan syndrome 
Noonan syndrome 2 - See Noonan syndrome 
Noonan syndrome 3 - See Noonan syndrome 
Noonan syndrome 4 - See Noonan syndrome 
Noonan syndrome 5 - See Noonan syndrome 
Noonan syndrome 6 - See Noonan syndrome 
Norrie disease 
North Carolina macular dystrophy 
Nystagmus 1, congenital, X- linked 
Nystagmus 2, congenital, autosomal dominant 
O Donnell Pappas syndrome 
Ocular albinism type 1 
Ocular neuromyotonia 
Oculoauriculofrontonasal syndrome 
Oculocerebral syndrome with hypopigmentation 
Oculocutaneous albinism type 1 
Oculocutaneous albinism type 1B 
Oculocutaneous albinism type 2 
Oculocutaneous albinism type 3 
Oculodentodigital dysplasia 
Oculofaciocardiodental syndrome 
Oculomotor apraxia Cogan type 
Oculopharyngeal muscular dystrophy 
Oculopharyngodistal myopathy 
Oguchi disease 
OPA3 defect 
Opsoclonus-myoclonus syndrome 
Optic atrophy 1 
Optic atrophy 2 
Optic atrophy 5 
Optic atrophy 6 
Optic neuritis 
Orbital varix 
Osteopetrosis autosomal dominant type 2 
Osteopetrosis autosomal recessive 4 
Osteoporosis-pseudoglioma syndrome 
Panuveitis 
Parkinson disease type 9 
Partington syndrome 
Patterned dystrophy of retinal pigment epithelium 
Pearson syndrome 
PEHO syndrome 
Pelizaeus-Merzbacher disease 
Peters anomaly 
Peters plus syndrome 
Peutz-Jeghers syndrome 
PHACE syndrome 
Piebaldism 
Pierre Robin sequence 
Pillay syndrome 
Pontocerebellar hypoplasia type 3 
Popliteal pterygium syndrome 
Porphyria cutanea tarda 
Posterior uveitis 
Primary open angle glaucoma juvenile onset 1 
Progeria 
Progressive bifocal chorioretinal atrophy 
Proximal chromosome 18q deletion syndrome 
Pseudohypoparathyroidism type 1A 
Pseudohypoparathyroidism type 1C 
Pseudopseudohypoparathyroidism 
Pseudoxanthoma elasticum 
Pterygium of the conjunctiva and cornea 
Ptosis strabismus ectopic pupils 
Punctate inner choroidopathy 
Recessive dystrophic epidermolysis bullosa-generalized other 
Reese retinal dysplasia 
Refsum disease 
Refsum disease, infantile form 
Renal coloboma syndrome 
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 
Retinal cone dystrophy 1 
Retinal cone dystrophy 2 
Retinal cone dystrophy 3A 
Retinal cone dystrophy 3B 
Retinal cone dystrophy 4 
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 
Retinal vasculopathy with cerebral leukodystrophy 
Retinitis pigmentosa 
Retinitis pigmentosa 1 - See Retinitis pigmentosa 
Retinitis Pigmentosa 11 - See Retinitis pigmentosa 
Retinitis pigmentosa 12 - See Retinitis pigmentosa 
Retinitis Pigmentosa 13 - See Retinitis pigmentosa 
Retinitis Pigmentosa 14 - See Retinitis pigmentosa 
Retinitis Pigmentosa 15 - See Retinitis pigmentosa 
Retinitis Pigmentosa 17 - See Retinitis pigmentosa 
Retinitis Pigmentosa 18 - See Retinitis pigmentosa 
Retinitis Pigmentosa 19 - See Retinitis pigmentosa 
Retinitis pigmentosa 2, X-linked - See Retinitis pigmentosa 
Retinitis Pigmentosa 20 - See Retinitis pigmentosa 
Retinitis Pigmentosa 22 - See Retinitis pigmentosa 
Retinitis Pigmentosa 23 - See Retinitis pigmentosa 
Retinitis Pigmentosa 24 - See Retinitis pigmentosa 
Retinitis Pigmentosa 25 - See Retinitis pigmentosa 
Retinitis Pigmentosa 26 - See Retinitis pigmentosa 
Retinitis Pigmentosa 28 - See Retinitis pigmentosa 
Retinitis pigmentosa 29 - See Retinitis pigmentosa 
Retinitis pigmentosa 3 - See Retinitis pigmentosa 
Retinitis Pigmentosa 30 - See Retinitis pigmentosa 
Retinitis Pigmentosa 31 - See Retinitis pigmentosa 
Retinitis Pigmentosa 32 - See Retinitis pigmentosa 
Retinitis Pigmentosa 33 - See Retinitis pigmentosa 
Retinitis Pigmentosa 34 - See Retinitis pigmentosa 
Retinitis Pigmentosa 35 - See Retinitis pigmentosa 
Retinitis Pigmentosa 36 - See Retinitis pigmentosa 
Retinitis Pigmentosa 4 - See Retinitis pigmentosa 
Retinitis Pigmentosa 41 - See Retinitis pigmentosa 
Retinitis Pigmentosa 6 - See Retinitis pigmentosa 
Retinitis Pigmentosa 7 - See Retinitis pigmentosa 
Retinitis Pigmentosa 9 - See Retinitis pigmentosa 
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 
Retinopathy of prematurity 
Revesz syndrome 
Rhizomelic chondrodysplasia punctata type 1 
RHYNS syndrome 
Ring dermoid of cornea 
Roberts syndrome 
Rutherfurd syndrome 
Saethre-Chotzen syndrome 
Sandhoff disease 
Sarcoidosis - Not a rare disease 
Scheie syndrome 
Schimke immunoosseous dysplasia 
Schwartz Jampel syndrome 
Sengers syndrome 
Senior Loken Syndrome 
Septo-optic dysplasia spectrum 
Serpiginous choroiditis 
Severe generalized recessive dystrophic epidermolysis bullosa 
Severe X-linked intellectual disability, Gustavson type 
SHORT syndrome 
Sialidosis type I 
Sialidosis, type II 
Sjogren-Larsson syndrome 
Slow-channel congenital myasthenic syndrome 
Smith-Lemli-Opitz syndrome 
Snowflake vitreoretinal degeneration 
Sotos syndrome 
Spastic paraplegia 2 
Spastic paraplegia 7 
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 
Spinocerebellar ataxia 7 
Spinocerebellar ataxia autosomal recessive 5 
Spinocerebellar degeneration and corneal dystrophy 
Spondyloepiphyseal dysplasia 
SRD5A3-CDG (CDG-Iq) 
Stargardt disease 
Stickler syndrome type 1 
Stickler syndrome, type 2 
Sturge-Weber syndrome 
Subaortic stenosis short stature syndrome 
Superior limbic keratoconjunctivitis 
Syndromic microphthalmia, type 3 
Tangier disease 
Tay-Sachs disease 
Tietz syndrome 
Tolosa Hunt syndrome 
Trachoma 
Treacher Collins syndrome 
Triple A syndrome 
Triploidy 
Trisomy 13 
Trisomy 18 
Tuberous sclerosis 
Tubulointerstitial nephritis and uveitis 
Tucker syndrome 
Tyrosinemia type 2 
Usher syndrome 
Usher syndrome type 2A 
Usher syndrome type 3A 
Usher syndrome, type 1 
Usher syndrome, type 1B - See Usher syndrome 
Usher syndrome, type 1C - See Usher syndrome 
Usher syndrome, type 1D - See Usher syndrome 
Usher syndrome, type 1E - See Usher syndrome 
Usher syndrome, type 1F - See Usher syndrome 
Usher syndrome, type 2B - See Usher syndrome 
Usher syndrome, type 2C - See Usher syndrome 
Uveal diseases 
Verloes Van Maldergem Marneffe syndrome 
Vernal keratoconjunctivitis 
Vici syndrome 
Visual snow syndrome 
Vogt-Koyanagi-Harada disease 
Von Hippel-Lindau disease 
Waardenburg syndrome type 1 
Waardenburg syndrome type 2 
Waardenburg syndrome type 3 
Waardenburg syndrome type 4 
Wagner syndrome 
WAGR syndrome 
Walker-Warburg syndrome 
Weill-Marchesani syndrome 
Werner's syndrome 
Williams syndrome 
Wilson disease 
Wolf-Hirschhorn syndrome 
Wolfram syndrome 
Wrinkly skin syndrome 
Wyburn-Mason syndrome 
X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease 
X-linked congenital generalized hypertrichosis 
X-linked congenital stationary night blindness 
X-linked dominant chondrodysplasia punctata 2 
X-linked hypohidrotic ectodermal dysplasia 
X-linked ichthyosis 
X-linked myotubular myopathy 
Zellweger syndrome