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Corneal Dystrophies, Hereditary

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Definition: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.     
Examples Corneal Dystrophy, Juvenile Epithelial of Meesmann; Fuchs' Endothelial Dystrophy
Other names Stromal Dystrophies, Corneal; Macular Dystrophy, Corneal; Groenouw's Dystrophies; Granular Dystrophy, Corneal; Stromal Dystrophy, Corneal; Macular Dystrophies, Corneal; Hereditary Corneal Dystrophy; Hereditary Corneal Dystrophies; Groenouws Dystrophies; Groenouw Dystrophies; Granular Dystrophies, Corneal; Dystrophy, Hereditary Corneal; Dystrophy, Corneal Stromal; Dystrophy, Corneal Macular; Dystrophy, Corneal Granular; Dystrophies, Hereditary Corneal; Dystrophies, Groenouw's; Dystrophies, Corneal Stromal; Dystrophies, Corneal Macular; Dystrophies, Corneal Granular
 
SubstanceCAS Registry & nameCategoriesSource
Kuster Majewski Hammerstein syndrome  0   *Alopecia *Corneal Dystrophies, Hereditary *Growth Disorders.
Lattice corneal dystrophy type 1  0   *Corneal Dystrophies, Hereditary.
O'Donnell Pappas syndrome  0   *Cataract/congenital *Corneal Dystrophies, Hereditary *Nystagmus, Congenital Fovea Centralis/abnormalities.
Macular dystrophy, retinal, 1, North Carolina type  0   *Corneal Dystrophies, Hereditary.
Macular dystrophy, corneal type 1  0   *Corneal Dystrophies, Hereditary.
Macular dystrophy, concentric annular  0   *Corneal Dystrophies, Hereditary.
Oculodental syndrome Rutherfurd syndrome  0   *Corneal Dystrophies, Hereditary *Gingival Hypertrophy.
Judge Misch Wright syndrome  0   *Corneal Dystrophies, Hereditary *Facial Dermatoses *Keratoderma, Palmoplantar *Nail Diseases.
Meretoja syndrome  0   *Amyloidosis *Corneal Dystrophies, Hereditary.
Ichthyosiform erythroderma, corneal involvement, deafness  0   *Corneal Dystrophies, Hereditary *Deafness *Ichthyosis, Lamellar.
Groenouw type I corneal dystrophy  0   *Corneal Dystrophies, Hereditary.
Sammartino De Crecchio Syndrome  0   *Corneal Dystrophies, Hereditary *Ichthyosis *Intellectual Disability *Microcephaly. Ophthalmologica 185(4):226-30
Brachymesomelia renal syndrome  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Corneal Dystrophies, Hereditary *Craniofacial Abnormalities *Kidney Diseases, Cystic/congenital.
Alopecia macular degeneration growth retardation  0   *Alopecia *Corneal Dystrophies, Hereditary *Growth Disorders.
Mousa Al din Al Nassar syndrome  0   *Abnormalities, Multiple *Cataract *Corneal Dystrophies, Hereditary *Myopia *Spinocerebellar Degenerations.
Corneodermatoosseous syndrome  0   *Corneal Dystrophies, Hereditary *Keratoderma, Palmoplantar *Lower Extremity Deformities, Congenital.
Ectodermal dysplasia, ectrodactyly, and macular dystrophy  0   *Corneal Dystrophies, Hereditary *Ectodermal Dysplasia *Hand Deformities, Congenital.
Corneal dystrophy, Thiel-Behnke type  0   *Corneal Dystrophies, Hereditary.
Pseudoinflammatory fundus dystrophy, Finnish type  0   *Corneal Dystrophies, Hereditary.
Stargardt disease 3  0   *Corneal Dystrophies, Hereditary *Chromosome Disorders Chromosomes, Human, Pair 6.
Stargardt disease 1  0   *Corneal Dystrophies, Hereditary.
Doyne honeycomb retinal dystrophy  0   *Corneal Dystrophies, Hereditary.
Stargardt disease 4  0   *Corneal Dystrophies, Hereditary.
Corneal dystrophy, gelatinous drop-like  0   *Corneal Dystrophies, Hereditary *Amyloidosis, Familial.
Corneal dystrophy of Bowman layer, type 1  0   *Corneal Dystrophies, Hereditary.
Corneal dystrophy crystalline of Schnyder  0   *Corneal Dystrophies, Hereditary.
Corneal dystrophy Avellino type  0   *Corneal Dystrophies, Hereditary.
Corneal dystrophy and perceptive deafness  0   *Corneal Dystrophies, Hereditary *Hearing Loss, Sensorineural.
Corneal cerebellar syndrome  0   *Corneal Dystrophies, Hereditary *Spinocerebellar Degenerations.
Bietti's crystalline dystrophy  0   *Corneal Dystrophies, Hereditary *Retinal Diseases.
Dermochondrocorneal dystrophy of Fran+šois  0   *Corneal Dystrophies, Hereditary *Exostoses, Multiple Hereditary.
Chorioretinal atrophy, progressive bifocal  0   *Corneal Dystrophies, Hereditary.
Vmd2 protein, mouse  0   *Eye Proteins *Ion Channels Corneal Dystrophies, Hereditary.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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