Granular corneal dystrophy type I
From Self-sufficiency
Granular corneal dystrophy type I | |
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Classification and external resources | |
File:Granular corneal dystrophy type I. Numerous irregular shaped discrete crumb-like corneal opacities.JPEG Numerous irregular shaped discrete crumb-like corneal opacities | |
OMIM | 121900 |
Granular corneal dystrophy type I (also corneal dystrophy Groenouw type I) is a rare form of human corneal dystrophy. It is caused by mutations in TGFBI gene encoding keratoepithelin.
It was first described by German ophthalmologist Arthur Groenouw in 1890, with expanded accounts in the following years.[1][2][3]
References
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- ↑ Groenouw, A. : Knoetchenfoermige Hornhauttruebungen (Noduli corneae). Arch. Augenheilk. 21: 281-289, 1890.
- ↑ Groenouw, A. : Knoetchenfoermige Hornhauttruebungen. Graefe Arch. Ophthal. 46: 85-102, 1898.
- ↑ Groenouw, A. : Knoetchenfoermige Hornhauttruebungen, vererbt durch drei Generationen. Klin. Mbl. Augenheilk. 58: 411-420, 1917.