An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI

PURPOSE: To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD). METHODS: Three generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of exons of TGFBI were performed. Exon 14 was also sequenced in 100 healthy controls unrelated to the family for comparison. RESULTS: The clinical features of the disease were characterized by geographic opacities in the anterior to mid stroma of the cornea. Molecular genetic analysis revealed a heterozygous point mutation at exon 14 (c.1915 G>A) in all affected members of the family. The unusual opacities involving the anterior to mid-cornea stroma were different from the phenotypic features of families previously reported to have the same genetic change. CONCLUSIONS: We speculate that this disorder is a variant of RBCD. This finding may expand our knowledge about RBCD and facilitate diagnosis of corneal dystrophies associated with atypical clinical features.