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Chang Rae Rho, Kyong Jin Cho, Jee Won Mok, Choun-Ki Joo; A Novel Tgfbi Gene Mutation, Ala620asp In Korean Patient With Atypical Lattice Type Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):6665.
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© ARVO (1962-2015); The Authors (2016-present)
To identify mutations in the TGFBI gene in a Korean family with atypical lattice type corneal dystrophy (LCD).
A complete ophthalmologic examination was performed on the proband and family members. A total of 156 LCD patients were screened, including 10 patients from five families and an 146 sporadic patients, all of Korean ancestry. Mutation screening of the entire coding regions of the TGFBI gene were performed by direct sequencing. One hundred fifty control individuals without corneal disease were selected from the general population.
We have identified a novel heterozygous mutation, A620D in exon 14 of the TGFBI gene. It was not present in unaffected individuals from control groups. Two heterozygous missense mutations, R124C for LCD type I and L527R for LCD type VI, were also observed.
This is the first report of a mutation, A620D, found in the TGFBIgene in a Korean family with atypical lattice type corneal dystrophy.
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