Abstract
PURPOSE: To identify a clinical and genetic form of a large Chinese family with an autosomal-dominant lattice corneal dystrophy type I (LCD I). METHODS: The patients' eyes were examined on the basis of slit-lamp microscopy, and other clinical records were also collected. Genomic DNA was extracted from peripheral leukocytes of the affected patients and their unaffected family members. Each previous reported mutation of the transforming growth factor β-induced gene (TGFBI) gene was amplified by touch-down polymerase chain reaction and directly sequenced to verify the disease-causing mutation. RESULTS: Typical clinical features of LCD I were found by slit-lamp photography in these affected Chinese pedigrees. A heterozygous single base-pair transition from C to T (c.418 C > T), leading to amino acid substitution Arg124Cys (R124C) in the encoded TGFBI protein, was detected in all of the eighteen affected patients. The same mutation was not found in unaffected family members. CONCLUSION: The R124C mutation hot spot, which was relatively rare in China, was responsible for LCD I in the large family. Molecular genetic analysis of TGFBI gene can offer an accurate diagnosis of patients with lattice corneal dystrophies in the clinical treatment.