Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy

Purpose This study is to summarize the concurrent keratoconus (KC) and granular corneal dystrophy (GCD) phenotype and identify the underlying genetic cause in a 23-year-old male patient. Methods A detailed family history and clinical data from the patient and his parents were collected by ophthalmol...

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Veröffentlicht in:	Graefe's archive for clinical and experimental ophthalmology 2017-09, Vol.255 (9), p.1779-1786
Hauptverfasser:	Du, Xianli, Chen, Peng, Sun, Dapeng
Format:	Artikel
Sprache:	eng
Schlagworte:	Cornea Corneal dystrophy Dystrophy Genetics Keratoconus Medicine Medicine & Public Health Missense mutation Mutation Nonsense mutation Ophthalmology
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