Here is the list of all Eye Diseases
- 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
- 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
Source Link -: https://rarediseases.info.nih.gov/diseases/diseases-by-category/9/eye-diseases