PURPOSE: To describe a Japanese family with lattice corneal dystrophy type
I, which segregates with a novel mutation, Leu518Pro of the beta ig-h3 gene
.
METHODS: DNA was extracted from leukocytes in four members (three affected
and one unaffected) of a Japanese family with lattice corneal dystrophy typ
e I. Exon 12 of the beta ig-h3 gene was amplified and analyzed with a molec
ular biologic method. Clinical data were also collected.
RESULTS: Three generations of this family have been positively diagnosed wi
th lattice corneal dystrophy, indicating autosomal dominant inheritance, We
found a heterozygous point mutation that segregates with the disease pheno
type. It was a single base-pair transition (CTG to CCG, Leu to Pro).
CONCLUSION: Although it is extremely rare compared with the Arg124Cys mutat
ion of the beta ig-h3 gene, Leu518Pro mutation of the beta ig-h3 also cause
s lattice corneal dystrophy type I. (Am J Ophthalmol 1999;128:104-106. (C)
1999 by Elsevier Science Inc, All rights reserved.).