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Granular corneal dystrophy type I : ウィキペディア英語版
Granular corneal dystrophy

Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood.
Granular corneal dystrophy has two types:
* Granular corneal dystrophy type I , also corneal dystrophy Groenouw type I, is a rare form of human corneal dystrophy. It was first described by German ophthalmologist Arthur Groenouw in 1890.
* Granular corneal dystrophy type II, also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy is also a rare form of corneal dystrophy. The disorder was first described by Folberg et al. in 1988. The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino.

== Genetics ==
Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31. The disorder is inherited in an autosomal dominant manner.〔 This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
The gene TGFBI encodes the protein keratoepithelin.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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