Developmental and genetic diseases
Atlas of developmental and genetic eye diseases
A
- Abetalipoproteinemia
- Achromatopsia
- Achromatopsia 3
- Adrenoleukodystrophy, autosomal neonatal form
- ADULT syndrome
- Aicardi syndrome - Eyes
- Albinism
- Albinism, ocular, type I
- Alkaptonuria - Eyes
- Alport syndrome - Eyes
- Alstrom syndrome
- Amyloid polyneuropathy, familial
- Amyloidosis V
- Aniridia
- Aphakia, congenital primary
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Ataxia-telangiectasia
- Axenfeld-Rieger syndrome, type 1
- Axenfeld-Rieger syndrome, type 3
B
C
- Cat eye syndrome
- Cataract, age-related cortical
- Cataract, anterior polar
- Cataract, autosomal dominant
- Cataract, congenital
- Cataract, congenital nuclear
- Cataract, congenital nuclear, autosomal recessive 2
- Cataract, crystalline aculeiform
- Cataract, lamellar
- Cataract, nuclear progressive
- Cataract, polymorphic and lamellar
- Cataract, posterior polar
- Cataract, posterior polar, 2
- Cataract, posterior polar, 4
- Cataract, posterior polar, 5
- Cataract, progressive polymorphic cortical
- Cataract, sutural
- Cataract, zonular pulverulent 1
- Cataract, zonular pulverulent 3
- Cataract-microcornea syndrome
- Cerebellooculorenal syndrome 2
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy - Eyes
- Cerebrooculofacioskeletal syndrome
- Cerebrooculofacioskeletal syndrome 2
- Cerebrooculofacioskeletal syndrome 4
- Ceroid lipofuscinosis, neuronal, 10
- Charcot-Marie-Tooth disease, dominant intermediate B
- CHARGE syndrome
- Choreoacanthocytosis
- Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
- Choroideremia
- Chylomicronemia, familial
- CINCA syndrome
- Coats disease
- Cockayne syndrome
- Coloboma, ocular
- Coloboma of optic nerve
- Colorblindness, blue-mono-cone-monochromatic type
- Common variable immunodeficiency
- Complement factor H deficiency
- Cone dystrophy
- Cone dystrophy 3
- Cone-rod dystrophy 3
- Cone-rod dystrophy 5
- Cone-rod dystrophy 6
- Cone-rod dystrophy 7
- Congenital disorder of glycosylation, type Ic
- Conradi-Hunermann-Happle syndrome
- Cornea plana 2
- Corneal dystrophy
- Corneal dystrophy and perceptive deafness
- Corneal dystrophy of Bowman layer
- Corneal dystrophy of Bowman layer, type I
- Corneal dystrophy of Bowman layer, type II
- Corneal dystrophy, Avellino type
- Corneal dystrophy, congenital stromal
- Corneal dystrophy, crystalline, of Schnyder
- Corneal dystrophy, fleck
- Corneal dystrophy, Fuchs endothelial, 1
- Corneal dystrophy, Fuchs endothelial, 2
- Corneal dystrophy, Fuchs endothelial, 5
- Corneal dystrophy, gelatinous drop-like
- Corneal dystrophy, hereditary posterior polymorphous
- Corneal dystrophy, juvenile epithelial, of Meesmann
- Corneal dystrophy, lattice type
- Corneal dystrophy, lattice type I
- Corneal dystrophy, lattice type IIIA
- Corneal dystrophy, posterior amorphous
- Corneal endothelial dystrophy 1
- Corneal endothelial dystrophy 2
- Cornelia de Lange syndrome
- Costello syndrome
- Cowden disease - Eyes
- Craniodiaphyseal dysplasia
- Craniofrontonasal syndrome
- Crouzon syndrome
- Crouzon syndrome with acanthosis nigricans
- Cutis laxa
- Cystic eye, congenital
- Cystinosis
- Cystinosis, nephropathic
- Cytomegalovirus infection, congenital
D
- Dacryocystocele
- Darier disease - Eyes
- Dihydropyrimidine dehydrogenase deficiency
- Dowling-Degos disease
- Doyne honeycomb retinal dystrophy
- Duane radial ray syndrome
- Duane retraction syndrome 1
- Duane retraction syndrome 2
- Duchenne muscular dystrophy
- Dyskeratosis, hereditary benign intraepithelial
- Dystrophia myotonica - Eyes
E
F
- Fabry disease - Eyes
- Fibrosis of extraocular muscles, congenital
- Fibrosis of extraocular muscles, congenital, 1
- Fibrosis of extraocular muscles, congenital, 2
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- Fibrosis of extraocular muscles, congenital, 3C
- Focal dermal hypoplasia - Eyes
- Fraser syndrome
- Freeman-Sheldon syndrome
- Friedreich ataxia 1
- Frontonasal dysplasia
- Fuchs endothelial corneal dystrophy
- Fundus albipunctatus
- Fundus dystrophy, pseudoinflammatory, of Sorsby
G
- Galactokinase deficiency
- Galactosemia
- GAPO syndrome
- Gitelman syndrome
- Glaucoma 1, open angle, H
- Glaucoma 3, primary congenital, A
- Glaucoma, primary open angle, juvenile-onset, 1
- Goldenhar syndrome - Eyes
- Goldmann-Favre syndrome
- Gorlin syndrome
- Graves ophthalmopathy
- Groenouw type I corneal dystrophy
- Gyrate atrophy
H
- Hallermann-Streiff syndrome
- Hemifacial microsomia with radial defects
- Hermansky-Pudlak syndrome
- Hermansky-Pudlak syndrome 1
- Hermansky-Pudlak syndrome 2
- Hermansky-Pudlak syndrome 3
- Hermansky-Pudlak syndrome 5
- Hermansky-Pudlak syndrome 8
- Heterochromia iridis
- Homocystinuria
- Horner syndrome, congenital
- Hypercholesterolemia, familial
- Hyperferritinemia-cataract syndrome
- Hyperimmunoglobulin E recurrent infection syndrome
- Hyperoxaluria, primary, type I
- Hypertelorism
- Hypomyelination and congenital cataract
- Hypotelorism
- Hypotrichosis, congenital, with juvenile macular dystrophy
L
M
- Macrophthalmia, colobomatous, with microcornea
- Macular corneal dystrophy
- Macular degeneration, age-related, 1
- Macular degeneration, age-related, 2
- Macular dystrophy, butterfly-shaped pigmentary, 2
- Macular dystrophy, concentric annular
- Macular dystrophy, retinal, 2
- Macular dystrophy, vitelliform
- Mandibulofacial dysostosis with ptosis, autosomal dominant
- Marcus Gunn phenomenon
- Marfan syndrome - Eyes
- Marinesco-Sjögren syndrome
- Marshall syndrome
- Mental retardation, truncal obesity, retinal dystrophy, and micropenis
- Mental retardation, X-linked 92
- Mental retardation, X-linked, with nystagmus
- Microcoria, congenital
- Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
- Microhydranencephaly
- Microphthalmia
- Microphthalmia, isolated, 1
- Microphthalmia, isolated, 3
- Microphthalmia, isolated, with coloboma 3
- Microphthalmia, isolated, with coloboma 4
- Microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen
- Microphthalmia, syndromic 1
- Microphthalmia, syndromic 2
- Microphthalmia, syndromic 3
- Microphthalmia, syndromic 7
- Microphthalmia, syndromic 9
- Microspherophakia
- Miller-Dieker lissencephaly syndrome
- Minicore myopathy with external ophthalmoplegia
- Moebius syndrome
- Monosomy 1p36 syndrome
- Moore-Federman syndrome
- Morning glory disc anomaly
- Mowat-Wilson syndrome
- Moyamoya disease
- Muckle-Wells syndrome
- Mucolipidosis II
- Mucolipidosis IV
- Mucopolysaccharidosis, type IH
- Mucopolysaccharidosis, type VI
- Muir-Torre syndrome
- Multiple endocrine neoplasia, type IIA
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
- Myopia 13
N
- Nail-patella syndrome
- Nance-Horan syndrome
- Neuraminidase deficiency
- Neurofibromatosis, type I - Eyes
- Neurofibromatosis, type I - Segmental neurofibromatosis
- Neurofibromatosis, type II
- Night blindness, congenital stationary, autosomal dominant
- Night blindness, congenital stationary, type 1C
- Noonan syndrome
- North Carolina macular dystrophy
- Nystagmus 1, congenital, X-linked
- Nystagmus 6, congenital, X-linked
O
- Oculocerebrocutaneous syndrome
- Oculocutaneous albinism, type I
- Oculocutaneous albinism, type IB
- Oculocutaneous albinism, type II
- Oculocutaneous albinism, type III
- Oculocutaneous albinism, type IV
- Oculodentodigital dysplasia
- Oculopharyngeal muscular dystrophy
- Oguchi disease
- Oligocone trichromacy
- Opitz syndrome
- Optic atrophy 1
- Optic atrophy 1 and deafness
- Optic atrophy 7
- Optic atrophy and cataract, autosomal dominant
- Optic disc pit
- Optic nerve hypoplasia, bilateral
- Orbital dermoid cyst
- Osteogenesis imperfecta, type I
P
- Patterned dystrophy of retinal pigment epithelium
- PEHO syndrome
- Peripapillary atrophy, beta type
- Peters anomaly
- Peters-plus syndrome
- Pfeiffer syndrome
- Pierson syndrome
- Pilomatrixoma
- Pigmented paravenous chorioretinal atrophy
- Plagiocephaly
- Polycythemia vera
- Progressive external ophthalmoplegia
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4
- Pseudoxanthoma elasticum - Eyes
- Pterygium syndrome
- Ptosis, hereditary congenital
- Ptosis, hereditary congenital 1
R
- Retinal arteriolar tortuosity
- Retinal cone dystrophy 3B
- Retinal cone dystrophy 4
- Retinal dysplasia
- Retinal pigment epithelium, congenital hypertrophy
- Retinitis pigmentosa
- Retinitis pigmentosa 1
- Retinitis pigmentosa 11
- Retinitis pigmentosa 12
- Retinitis pigmentosa 13
- Retinitis pigmentosa 14
- Retinitis pigmentosa 18
- Retinitis pigmentosa 2
- Retinitis pigmentosa 25
- Retinitis pigmentosa 26
- Retinitis pigmentosa 3
- Retinitis pigmentosa 31
- Retinitis pigmentosa 33
- Retinitis pigmentosa 34
- Retinitis pigmentosa 37
- Retinitis pigmentosa 38
- Retinitis pigmentosa 4
- Retinitis pigmentosa 41
- Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
- Retinoblastoma
- Retinopathy of prematurity
- Retinoschisis 1, X-linked, juvenile
- Ring dermoid of cornea
- Rubella, congenital
- Rubinstein-Taybi syndrome - Eyes
S
- Sandhoff disease
- Schimmelpenning-Feuerstein-Mims syndrome
- Sclerocornea
- Seckel syndrome
- Sener syndrome
- Senior-Loken syndrome
- Septooptic dysplasia - Eyes
- Sickle cell anemia - Eyes
- Silver-Russell syndrome
- Situs inversus of the optic disc
- Smith-Lemli-Opitz syndrome
- Sotos syndrome
- Spastic ataxia of the Charlevoix-Saguenay type
- Spastic paraplegia 15, autosomal recessive
- Spinocerebellar ataxia 1
- Spinocerebellar ataxia 7
- Stargardt disease 1
- Stargardt disease 3
- Stargardt disease 4
- Stickler syndrome
- Stickler syndrome, autosomal recessive, COL9A1-related
- Stickler syndrome, type I
- Stickler syndrome, type II
- Sturge-Weber syndrome - Eyes
- Supranuclear palsy, progressive, 1
- Sveinsson chorioretinal atrophy
T
- Tay-Sachs disease - Eyes
- Telangiectasia, hereditary hemorrhagic - Eyes
- Toxoplasmosis, congenital
- Treacher Collins syndrome
- Trichorhinophalangeal syndrome, type II
- Triple-A syndrome
- Trisomy 13
- Trisomy 21 - Eyes
- Tuberous sclerosis - Eyes
- Tukel syndrome
- Tumoral calcinosis, hyperphosphatemic, familial
- Tyrosine transaminase deficiency
V
W
- Waardenburg syndrome
- Waardenburg syndrome, type I
- Waardenburg syndrome, type IIA
- Wagner syndrome 1
- WAGR syndrome
- Walker-Warburg syndrome
- Warburg micro syndrome
- Weaver syndrome
- Weill-Marchesani syndrome
- Weill-Marchesani syndrome, autosomal dominant
- Weissenbacher-Zweymuller syndrome
- Werner syndrome
- Wildervanck syndrome
- Williams-Beuren syndrome
- Wilson disease - Eyes
- Wolf-Hirschhorn syndrome
- Wolfram syndrome
- Wolfram syndrome 1
- Woodhouse-Sakati syndrome
Edited by Aldo Campana,