PURPOSE: To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines. DESIGN: Interventional case report. METHODS: A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing. RESULTS: The patient had diffuse opacification of the central corneal stroma but without lattice lines and corneal epithelial erosions bilaterally. Molecular genetic analysis identified a lattice corneal dystrophy I-associated heterozygous missense alteration (C417T) that changed arginine in codon 124 to cysteine (R124C) in the TGFBI gene. CONCLUSIONS: The cornea of the patient appeared to represent late-stage lattice corneal dystrophy I, which suggests the existence of interactions of modifier genes, environmental factors during corneal aging, or both. The molecular genetic analysis of TGFBI can offer rapid, accurate diagnosis of patients with atypical corneal appearance.
PURPOSE: To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines. DESIGN: Interventional case report. METHODS: A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing. RESULTS: The patient had diffuse opacification of the central corneal stroma but without lattice lines and corneal epithelial erosions bilaterally. Molecular genetic analysis identified a lattice corneal dystrophy I-associated heterozygous missense alteration (C417T) that changed arginine in codon 124 to cysteine (R124C) in the TGFBI gene. CONCLUSIONS: The cornea of the patient appeared to represent late-stage lattice corneal dystrophy I, which suggests the existence of interactions of modifier genes, environmental factors during corneal aging, or both. The molecular genetic analysis of TGFBI can offer rapid, accurate diagnosis of patients with atypical corneal appearance.
Authors: So Young Yoo; Tae-Im Kim; Sang Yup Lee; Eung Kweon Kim; Ki Chang Keum; Nae Choon Yoo; Won Min Yoo Journal: Br J Ophthalmol Date: 2007-01-10 Impact factor: 4.638
Authors: Anna K Nowińska; Edward Wylegala; Dominika A Janiszewska; Dariusz Dobrowolski; Pasquale Aragona; Anna M Roszkowska; Domenico Puzzolo Journal: Mol Vis Date: 2011-08-30 Impact factor: 2.367