Granular corneal dystrophy type II
| Granular corneal dystrophy type II | |
|---|---|
| Classification and external resources | |
|
File:Granular corneal dystrophy type II slit lamp.JPEG Variable sized crumb-like opacities in the corneal stroma that have become fused in areas giving rise to elongated and stellate shapes. | |
| OMIM | 607541 |
Granular corneal dystrophy type II (CGD2), also called Avellino corneal dystrophy (ACD) or combined granular-lattice corneal dystrophy,[1] is a rare form of human corneal dystrophy. It is caused by mutations in the TGFBI gene encoding the protein keratoepithelin, and is inherited in an autosomal dominant pattern.[2] The disorder was first described by Folberg et al. in 1988.[3]
Genetics
CGD2 is caused by a mutation in the TGFBI gene, located on chromosome 5q31.[4] The disorder is inherited in an autosomal dominant manner.[2] 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.
References
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- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 607541
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