| H00955 | |
| H number | H00955 |
| Name | Granular corneal dystrophies |
| Description | Granular corneal dystrophy (GCD), inherited in an autosomal dominant fashion, is one of the most common corneal dystrophies characterized by the deposition of gray-white crumb like opacities in the anterior stroma that slowly increase in number and progress into deeper parts of the cornea. The disease is typically asymptomatic, but can present with pain from recurrent erosions and decreased vision. Opacities in granular dystrophy are composed of eosinophilic hyaline deposits. Differences in the clinical appearance of the discrete corneal opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino or granular-lattice type, and type III Reis-Bucklers type. GCD has been linked to several mutations in TGFBI gene. |
| Category | Nervous system disease |
| Network | - |
| Gene | TGFBI [HSA:7045] [KO:K19519] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | In regard to Granular corneal dystrophy (GCD) type III, see also [DS:H00951]. |
| Other DBs | ICD-11: 9A70.Y ICD-10: H18.5 MeSH: C537304 C535474 OMIM: 121900 607541 608470 |
| Reference | PMID:19236704 AUTHORS Klintworth GK TITLE Corneal dystrophies. JOURNAL Orphanet J Rare Dis 4:7 (2009) DOI:10.1186/1750-1172-4-7 PMID:18214787 AUTHORS Poulaki V, Colby K TITLE Genetics of anterior and stromal corneal dystrophies. JOURNAL Semin Ophthalmol 23:9-17 (2008) DOI:10.1080/08820530701745173 PMID:16900028 AUTHORS Pieramici SF, Afshari NA TITLE Genetics of corneal dystrophies: the evolving landscape. JOURNAL Curr Opin Ophthalmol 17:361-6 (2006) DOI:10.1097/01.icu.0000233955.94347.84 |