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
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
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
Blepharo-cheilo-odontic 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
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
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 dysautonomia
Familial exudative vitreoretinopathy
Familial isolated hypoparathyroidism
Familial LCAT deficiency
Familial visceral myopathy with external ophthalmoplegia
Farber 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
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 2
Hereditary hemorrhagic telangiectasia type 3
Hereditary hemorrhagic telangiectasia type 4
Hereditary keratitis
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
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
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 - See
Methylmalonic acidemia with homocystinuria
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
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 spectrum disorder
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
Pattern dystrophy
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 with systemic manifestations
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 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
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 complex
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 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
