[Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta].
OBJECTIVE
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.
Kawashima
Motoko
M
Department of Ophthalmology, Keio University School of Medicine, Japan.
Yamada
Masakazu
M
Funayama
Tomoyo
T
Mashima
Yukihiko
Y
D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine; D003315:Cornea / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007930:Leucine; D008297:Male; D008875:Middle Aged; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1; D001120:Arginine; D007930:Leucine