Lattice corneal dytrophy type I without typical lattice line: role of mutational analyi

Purpoe To decribe a Japanee patient with lattice corneal dytrophy type I (LCD I) who lacked the typical lattice line. Deign Interventional cae report. Method A complete ophthalmologic examination wa performed on a 54-year-old woman, and the TGFBI gene wa analyzed by direct genomic equencing. Reult The patient had diffue opacification of the central corneal troma but without lattice line and corneal epithelial eroion bilaterally. Molecular genetic analyi identified a lattice corneal dytrophy I–aociated heterozygou miene alteration (C417T) that changed arginine in codon 124 to cyteine (R124C) in the TGFBI gene. Concluion The cornea of the patient appeared to repreent late-tage lattice corneal dytrophy I, which ugget the exitence of interaction of modifier gene, environmental factor during corneal aging, or both. The molecular genetic analyi of TGFBI can offer rapid, accurate diagnoi of patient with atypical corneal appearance.