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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Eye diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* 3-methylglutaconic aciduria type III
* Abetalipoproteinemia
* Ablepharon macrostomia syndrome
* Acanthocytosis
* 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 type 1
* Alport syndrome
* Alström syndrome
* Ambras syndrome
* Amyloidosis corneal
* Aniridia
* Aniridia absent patella
* Aniridia renal agenesis psychomotor retardation
* Ankyloblepharon filiforme imperforate anus
* Anterior segment mesenchymal dysgenesis
* Anterior uveitis
* Apert syndrome
* Aromatic amino acid decarboxylase deficiency
* Arthrogryposis renal dysfunction cholestasis syndrome
* Ataxia telangiectasia
* Ataxia with vitamin E deficiency
* Ausems Wittebol-Post Hennekam syndrome
* Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy
* Autosomal recessive Alport syndrome
* Axenfeld-Rieger syndrome
* Ayazi syndrome
* Barber Say syndrome
* Bardet-Biedl syndrome
* Barth syndrome
* Behcet's disease
* Behr syndrome
* Best vitelliform macular dystrophy
* Best1 retinopathy
* Bietti crystalline corneoretinal dystrophy
* Birdshot chorioretinopathy
* Blau syndrome
* Blepharoptosis myopia ectopia lentis
* Bloom syndrome
* Blue cone monochromatism
* Borjeson-Forssman-Lehmann syndrome
* Brittle cornea syndrome
* Brown syndrome
* CADASIL
* CAHMR syndrome
* Carney complex
* Cat Eye syndrome
* Cataract and cardiomyopathy
* 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
* Cataract, zonular
* Cerebro-oculo-facio-skeletal syndrome
* Cerebrotendinous xanthomatosis
* Cerulean cataract
* Chanarin-Dorfman syndrome
* CHAND syndrome
* Chandler's syndrome
* Chang Davidson Carlson syndrome
* Char syndrome
* CHARGE syndrome
* Charles Bonnet syndrome
* Chediak-Higashi syndrome
* Chondrodysplasia punctata 2 X-linked dominant
* Chorioretinitis
* Choroidal dystrophy central areolar
* Choroideremia
* Chromosome 18p deletion syndrome
* Chromosome 21q deletion
* Chromosome 2q24 microdeletion syndrome
* Chronic granulomatous disease
* 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 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
* Corneal dystrophy and perceptive deafness
* Corneal dystrophy Avellino type
* Corneal dystrophy crystalline of Schnyder
* Corneal dystrophy Fuchs endothelial 1
*   Corneal dystrophy Fuchs endothelial 2
* Corneal dystrophy of Bowman layer type 1
* Corneal dystrophy Thiel Behnke type
* Corneal hypesthesia, familial
* Cornelia de Lange syndrome
* Corneodermatoosseous syndrome
* Cri du chat syndrome
* Crouzon syndrome
* Cystinosis
* Dentatorubral-pallidoluysian atrophy
* Dermochondrocorneal dystrophy of François
* Dermoids of cornea
* Devic disease
* Dopamine beta hydroxylase deficiency
* Doyne honeycomb retinal dystrophy
* Duane syndrome
* Duane syndrome type 1
* Duane syndrome type 2
* Duane syndrome type 3
* Dubowitz syndrome
* Dyskeratosis congenita
* Dyskeratosis congenita autosomal dominant
* Dyssegmental dysplasia and glaucoma
* Eales disease
* Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Ectopia lentis, isolated autosomal recessive
* Ectropion inferior cleft lip and or palate
* EEM syndrome
* Epidermolysa bullosa simplex with muscular dystrophy
* Epithelial basement membrane corneal dystrophy
* Fabry disease
* Familial amyloidosis, Finnish type
* Familial cylindromatosis
* Familial dysautonomia
* Familial exudative vitreoretinopathy
* Familial visceral myopathy with external ophthalmoplegia
* Farber's disease
* Fine-Lubinsky syndrome
* Fish-eye disease
* Florid cemento-osseous dysplasia
* Focal dermal hypoplasia
* Fragile X syndrome
* Fraser syndrome
* Friedreich ataxia
* Frontofacionasal dysplasia
* Fuchs atrophia gyrata chorioideae et retinae
* Fuchs heterochromic iridocyclitis
* Fukuyama type muscular dystrophy
* Fundus dystrophy, pseudoinflammatory, of Sorsby
* Galactokinase deficiency
* Galactosialidosis
* GAPO syndrome
* Gardner syndrome
* 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
* Goldberg-Shprintzen megacolon syndrome
* Goldmann-Favre syndrome
* Griscelli syndrome type 1
* Griscelli syndrome type 2
* Griscelli syndrome type 3
* Groenouw type I corneal dystrophy
* Hay-Wells syndrome
* Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
* Hereditary hemorrhagic telangiectasia
* Hermansky Pudlak syndrome 2
* Homocystinuria due to CBS deficiency
* Hyperferritinemia cataract syndrome
* Hypertrichosis congenital generalized X-linked
* Hypohidrotic ectodermal dysplasia autosomal recessive
* Hypoparathyroidism
* Hypoparathyroidism familial isolated
* Ichthyosis lamellar 1
* Ichthyosis lamellar, autosomal dominant
* Idiopathic juxtafoveal retinal telangiectasia
* Incontinentia pigmenti
* Intraocular melanoma
* Jacobsen syndrome
* Joubert syndrome with oculorenal anomalies
* Junctional epidermolysis bullosa, Herlitz type
* Juvenile polyposis syndrome
* Juvenile retinoschisis
* Kabuki syndrome
* Kearns Sayre syndrome
* Keratitis, hereditary
*   Keratoconjunctivitis sicca
* Keratoconus
* Keratosis follicularis spinulosa decalvans
* KID syndrome
* Knobloch syndrome
* Konigsmark Knox Hussels syndrome
* Krabbe leukodystrophy
* Lacrimo-auriculo-dento-digital syndrome
* Lamellar ichthyosis
* Landau-Kleffner syndrome
* Laryngoonychocutaneous syndrome
* Lattice corneal dystrophy type 1
* Lattice corneal dystrophy type 3A
* LCHAD deficiency
* Leber congenital amaurosis
* Leber congenital amaurosis 1
* Leber congenital amaurosis 10
* Leber congenital amaurosis 11
* Leber congenital amaurosis 12
* Leber congenital amaurosis 13
* Leber congenital amaurosis 14
* Leber congenital amaurosis 15
* Leber congenital amaurosis 16
* Leber congenital amaurosis 2
* Leber congenital amaurosis 3
* Leber congenital amaurosis 4
* Leber congenital amaurosis 6
* Leber congenital amaurosis 9
* Leber hereditary optic neuropathy
* Leber miliary aneurysm
* Leigh syndrome, French Canadian type
* Lenz microphthalmia syndrome
* LEOPARD syndrome
* Limb-mammary syndrome
* Linear nevus sebaceous syndrome
* Lowe oculocerebrorenal syndrome
* Lowry Maclean syndrome
* Lubinsky syndrome
* Lymphedema-distichiasis syndrome
* Macular dystrophy, corneal type 1
* Marfan syndrome
* Marinesco-Sjogren syndrome
* Marshall syndrome
* Martsolf syndrome
* Maternally inherited diabetes and deafness
* Maternally inherited Leigh syndrome
* Meckel syndrome
* Meesmann corneal dystrophy
* Megalocornea - spherophakia - secondary glaucoma
* Melnick-Needles syndrome
* Menkes disease
* Mental deficiency-epilepsy-endocrine disorders
* Mevalonic aciduria
* Microcephaly microcornea syndrome Seemanova type
* Microcoria, congenital
* Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
* Microcornea corectopia macular hypoplasia
* Microphthalmia cataract
* Microphthalmia syndromic 10
* Microphthalmia syndromic 4
* Microphthalmia syndromic 5
* Microphthalmia syndromic 6
* Microphthalmia syndromic 7
* Microphthalmia syndromic 8
* Microphthalmia syndromic 9
* Microphthalmia, isolated, with corectopia
* Microspherophakia with hernia
* Microtia eye coloboma and imperforation of the nasolacrimal duct
* Miller syndrome
* Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
* Mitochondrial neurogastrointestinal encephalopathy syndrome
* Moebius syndrome
* Molybdenum cofactor deficiency
* Morquio syndrome A
* Mousa Al din Al Nassar syndrome
* Mucopolysaccharidosis type IIIA
* Mucopolysaccharidosis type IIIB
* Mucopolysaccharidosis type VII
* Muir-Torre syndrome
* Multiple familial trichoepithelioma 1
* Multiple familial trichoepithelioma 2
* Muscle eye brain disease
* Myoclonus with epilepsy with ragged red fibers
* Myotonic dystrophy type 1
* Myotonic dystrophy type 2
* Myxoma-spotty pigmentation-endocrine overactivity
* Nager acrofacial dysostosis
* Nail patella syndrome
* Nance-Horan syndrome
* Nathalie syndrome
* Neonatal adrenoleukodystrophy
* Neonatal progeroid syndrome
* Netherton syndrome
* Neurofibromatosis type 2
* Neurofibromatosis type 3A
* Neuropathy ataxia retinitis pigmentosa syndrome
* Nevoid basal cell carcinoma syndrome
* Noonan syndrome
* Noonan syndrome 1
* 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
* Oguchi disease
* Optic atrophy 1
* Optic atrophy 2
* Optic atrophy 5
* Optic atrophy 6
* Optic atrophy and cataract, autosomal dominant
* Optic neuritis
* Optic neuropathy, anterior ischemic
* Orbital varix
* Osteopetrosis autosomal dominant type 2
* Osteoporosis-pseudoglioma syndrome
* Panuveitis
* Partington X-linked mental retardation 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
* Porphyria cutanea tarda
* Posterior uveitis
* Progeria
* Progressive bifocal chorioretinal atrophy
* Prosopagnosia, hereditary
* 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
* Reese retinal dysplasia
* Refsum disease
* Refsum disease, infantile form
* Renal coloboma syndrome
* Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
* 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
* Retinitis Pigmentosa 11
* Retinitis pigmentosa 12
* Retinitis Pigmentosa 13
* Retinitis Pigmentosa 14
* Retinitis Pigmentosa 15
* Retinitis Pigmentosa 17
* Retinitis Pigmentosa 18
* Retinitis Pigmentosa 19
* Retinitis pigmentosa 2, x linked
* Retinitis Pigmentosa 20
* Retinitis Pigmentosa 22
* Retinitis Pigmentosa 23
* Retinitis Pigmentosa 24
* Retinitis Pigmentosa 25
* Retinitis Pigmentosa 26
* Retinitis Pigmentosa 28
* Retinitis pigmentosa 29
* Retinitis pigmentosa 3
* Retinitis Pigmentosa 30
* Retinitis Pigmentosa 31
* Retinitis Pigmentosa 32
* Retinitis Pigmentosa 33
* Retinitis Pigmentosa 34
* Retinitis Pigmentosa 35
* Retinitis Pigmentosa 36
* Retinitis Pigmentosa 4
* Retinitis Pigmentosa 41
* Retinitis Pigmentosa 6
* Retinitis Pigmentosa 7
* Retinitis Pigmentosa 9
* Retinopathy of prematurity
* RHYNS syndrome
* Ring dermoid of cornea
* Roberts syndrome
* Rutherfurd syndrome
* Sandhoff disease
*   Sarcoidosis
* Schimke immunoosseous dysplasia
* Schwartz Jampel syndrome type 1
* Senior Loken Syndrome
* Senter syndrome
* Septo-optic dysplasia
* Serpiginous choroiditis
* SHORT syndrome
* Sialidosis type I
* Sialidosis, type II
* Sjogren-Larsson syndrome
* Slow-channel congenital myasthenic syndrome
* Smith-Lemli-Opitz syndrome type 1
* Snowflake vitreoretinal degeneration
* Sotos syndrome
* Spastic paraplegia 2
* Spastic paraplegia 7
* Spinocerebellar ataxia autosomal recessive 1
* Spinocerebellar ataxia autosomal recessive 5
* Spinocerebellar degeneration and corneal dystrophy
* Spondyloepiphyseal dysplasia
* Stargardt disease
* Stickler syndrome type 1
* Stickler syndrome, type 2
* Sturge-Weber syndrome
* Subaortic stenosis short stature syndrome
* Superior limbic keratoconjunctivitis
* 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 3
* Usher syndrome, type 1
* Usher syndrome, type 1B
* Usher syndrome, type 1C
* Usher syndrome, type 1D
* Usher syndrome, type 1E
* Usher syndrome, type 1F
* Usher syndrome, type 2B
* Usher syndrome, type 2C
* Uveal diseases
* Verloes Van Maldergem Marneffe syndrome
* Vernal keratoconjunctivitis
* Vitreoretinochoroidopathy dominant
* Vogt-Koyanagi-Harada syndrome
* Von Hippel-Lindau disease
* Waardenburg syndrome type 1
* Waardenburg syndrome type 2
* Waardenburg syndrome type 3
* Waardenburg syndrome type 4
* Wagner syndrome
* Walker-Warburg syndrome
* Warburg micro syndrome
* Weill-Marchesani syndrome
* Werner's syndrome
* Williams syndrome
* Wilson disease
* Wolf-Hirschhorn syndrome
* Wolfram syndrome
* Wrinkly skin syndrome
* X-linked Charcot-Marie-Tooth disease type 5
* X-linked congenital stationary night blindness
* X-linked hypohidrotic ectodermal dysplasia
* X-linked ichthyosis
* Zellweger syndrome