Purpose This study is to summarize the concurrent tation (c.370G > A) in the TGFBI gene and insert mutation keratoconus (KC) and granular corneal dystrophy (GCD) phe- (c.1456-1457ins GAT) in the KRT12 gene were identified in a notype and identify the underlying genetic cause in a 23-year- 23-year-old male patient with concurrent KC and GCD. old male patient. . . Methods A detailed family history and clinical data from the Keywords Keratoconus Granular corneal dystrophy . . patient and his parents were collected by ophthalmologic ex- TGFBI KRT12 Chinese amination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. Introduction Results The proband was clinically diagnosed as a case of concurrent KC and GCD, which is a very rare presentation. Keratoconus (KC) is a bilateral, asymmetric, chronic progres- His father and grandmother were diagnosed as GCD in both sive ectasia of the cornea . The condition is characterized eyes. There was no character of KC in his father’s and grand- by corneal steepening and distortion, thinning of the corneal mother’s eyes. A heterozygous TGFBI mutation in exon 4 apex, and corneal scarring. Such changes cause progressive (c.370G > A)
Graefe's Archive for Clinical and Experimental Ophthalmology – Springer Journals
Published: May 31, 2017
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