[Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta].

PURPOSE: To investigate mutations in the transforming growth factor beta induced (TGFBI) gene and clinical features in 6 Japanese patients who were clinically diagnosed as having late-onset lattice corneal dystrophy (LCD).

METHODS: The six patients were all male, and their ages at diagnosis were 56-82 years (average +/- standard deviation, 71.8 +/- 9.8 years). Molecular genetic analysis in the TGFBI gene was performed after informed consent was obtained. Exons 11, 12, and 14 were amplified by polymerase chain reaction (PCR), and the PCR products were directly sequenced.

RESULTS: One of the 6 patients had a family history of corneal problems. Thick lattice lines in the middle to deep stroma (Cases 1, 2, and 3, right eye) and whitish nodular opaque lines in the middle stroma (Cases 4, 5, and 3, left eye) were observed. One patient showed tiny nodular deposits with thin lattice lines in the middle stroma (Case 6). A heterozygous Leu527Arg mutation in the TGFBI gene was detected in 5 patients (Cases 1 to 5); and there was Asn544Ser mutation in one patient (Case 6).

CONCLUSIONS: Patients with Leu527Arg mutation in the TGFBI gene showed the late-onset form of LCD with low penetration, and varied corneal appearance.