Molecular genetics of Chinese families with TGFBI corneal dystrophies.

ABSTRACT:

Purpose

To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2).

Methods

Clinical features of GCD1 and GCD2 in three Chinese families were studied with slit-lamp and in vivo laser scanning confocal microscopy (LSCM). Molecular genetic analysis was performed on nine patients and fifteen unaffected individuals from these families. All exons of TGFBI were amplified by polymerase chain reaction (PCR) and sequenced.

Results

Morphological changes in the cornea among affected individuals from three Chinese families examined by in vivo LSCM were almost the same. A heterozygous mutation C>T (R555W) was identi

SUBMITTER: Zhang T 

PROVIDER: S-EPMC3036564 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature