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T. Fujimaki, K. Fujiki, H. Toshida, A. Murakami; Lactoferrin Gene Mutation in Gelatinous Drop–like Corneal Dystrophy . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4918.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Gelatinous drop–like corneal dystrophy (GDLD, MIM 204870) is an autosomal recessive disorder characterized by severe corneal amyloidosis. Most of the patients have mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene. The presence of lactoferrin (LTF) in the amyloid deposits within the GDLD corneas has been described. Several variants of LTF are observed in healthy population. In this study, we evaluate frequency of variants of LTF among the GDLD patients. Method: Genomic DNA was extracted from leukocytes of peripheral blood in 10 GDLD patients (eight families) according to standard procedures, with informed consent. All but one family are associated with M1S1 mutations. We amplified the LTF exon 2 and exon 15 from genomic DNAs of the patients using a PCR method, and the dye terminator method was used for sequencing. Results:Three variants of LTF, A11T, K29R in exon 2 and E561D in exon 15, were observed. The heterozygous K/R at codon 29 and E/D at codon 561 are most frequently observed. Conclusions: The variants of codon 11 and 29 in LTF are common among the typical GDLD.. GDLD is known to have various phenotypes and the variants of LTF may have some effects in the clinical feature.
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