AIM: To identify the mutation within the TGFBI gene in a Chinese family with epithelial basement membrane dystrophy(EBMD).

METHODS: A detailed family history was collected and after full clinical examination, genomic DNA of three affected and four unaffected family members was extracted from peripheral leukocytes. All exons of TGFBI gene were amplified by PCR methods and direct sequencing was carried out for mutation analysis.

RESULTS: A missense mutation c.417C>T in exon 4 of TGFBI led to an amino acid substitution R124C which was responsible for the familial disorder. This change co-segregated with all affected members of the family, but was not detected either in the non-carrier relative or control individuals.

CONCLUSION: This is the first report of the R124C mutation within the TGFBI gene in EBMD. The results broaden the relationship between genotype and phenotype of corneal dystrophy, and establish the foundation for the further molecular genetics studies.