[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy]

To identify the mutation of the TGFBI gene in Chinese patients with Reis-Bücklers corneal dystrophy, and to study the relationship between the gene mutation and the clinical appearance.

Ten patients and 2 unaffected family members from 2 unrelated families with corneal dystrophy were studied. Molecular genetic analysis was performed on DNA extracted from peripheral leucocytes, and exons 4 and 12 of the TGFBI gene were amplified by polymerase chain reaction for direct sequencing.

Both pedigrees showed an autosomal dominant inheritance. The clinical appearance of the cornea consisted of fine granular, subepithelial opacities which spread and become confluent with time, and resembled geographic type of Reis-Bücklers corneal dystrophy. Direct sequencing of all affected members revealed a G-to-T transition at codon 124 (CGC to CTC), producing R124L mutation of TGFBI gene.

R124L mutation of the TGFBI gene is found in two Chinese families with Reis-Bücklers corneal dystrophy. The phenotype of Reis-Bücklers corneal dystrophy in both families belongs to the geographic type. Molecular genetic approach may be useful for the proper diagnosis of this type of corneal dystrophy.