H01221 | |
H number | H01221 |
Name | Epithelial basement membrane corneal dystrophy; Cogan microcystic epithelial dystrophy; Map-dot-fingerprint dystrophy |
Description | Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy. There is usually no hereditary pattern, but some cases presented with an autosomal dominant inheritance. Mutations in the TGFBI/BIGH3 genes, which are known to cause various forms of corneal dystrophies, have been identified. Sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium are the hallmarks of EBMD. Most patients are asymptomatic before the age of 30 years, but 10% of them may have recurrent idiopathic erosions and a loss of vision due to surface irregularity. |
Category | Nervous system disease |
Network | - |
Gene | TGFBI [HSA:7045] [KO:K19519] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 9A70.Y ICD-10: H18.5 MeSH: C535477 OMIM: 121820 |
Reference | PMID:16652336 AUTHORS Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF TITLE A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. JOURNAL Hum Mutat 27:553-7 (2006) DOI:10.1002/humu.20331 |