Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI.

ABSTRACT:

Aim

To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I).

Methods

Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of all participated. Exons of the transforming growth factor-β-induced (TGFBI) gene were directly sequenced after being amplified by polymerase chain reaction (PCR), and multi-point linkage analysis using microsatellite makers flanking the gene was applied to identify the disease-causing mutation.

Results

Clinical features were quite variable in patients, some patients only had opacities in the epithelium, and others revealed multiple bilateral circular, discrete, crumb-like opa

SUBMITTER: Zhao SJ 

PROVIDER: S-EPMC3755303 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature