| H00955 | |
| H番号 | H00955 |
| 名称 | 顆粒状角膜ジストロフィー |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | TGFBI [HSA:7045] [KO:K19519] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | In regard to Granular corneal dystrophy (GCD) type III, see also [DS:H00951]. |
| リンク | ICD-11: 9A70.Y ICD-10: H18.5 MeSH: C537304 C535474 OMIM: 121900 607541 608470 |
| 文献 | PMID:19236704 著者 Klintworth GK タイトル Corneal dystrophies. 雑誌 Orphanet J Rare Dis 4:7 (2009) DOI:10.1186/1750-1172-4-7 PMID:18214787 著者 Poulaki V, Colby K タイトル Genetics of anterior and stromal corneal dystrophies. 雑誌 Semin Ophthalmol 23:9-17 (2008) DOI:10.1080/08820530701745173 PMID:16900028 著者 Pieramici SF, Afshari NA タイトル Genetics of corneal dystrophies: the evolving landscape. 雑誌 Curr Opin Ophthalmol 17:361-6 (2006) DOI:10.1097/01.icu.0000233955.94347.84 |