Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis

To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines. Interventional case report. A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing. The patient had dif...

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Bibliographic Details
Published in:American journal of ophthalmology 2004-03, Vol.137 (3), p.586-588
Main Authors: Yoshida, Shigeo, Yoshida, Ayako, Nakao, Shintaro, Emori, Aki, Nakamura, Takao, Fujisawa, Kimihiko, Kumano, Yuji, Ishibashi, Tatsuro
Format: Article
Language:English
Subjects:
Biological and medical sciences
Corneal Dystrophies, Hereditary - diagnosis
Corneal Dystrophies, Hereditary - genetics
Corneal Opacity - diagnosis
Corneal Opacity - genetics
Corneal Stroma - pathology
Diseases of cornea, anterior segment and sclera
DNA Mutational Analysis
Extracellular Matrix Proteins - genetics
Female
Genes
Humans
Medical sciences
Middle Aged
Mutation
Mutation, Missense
Ophthalmology
Patients
Transforming Growth Factor beta - genetics
Visual Acuity
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Summary:To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines. Interventional case report. A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing. 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. 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.
ISSN:0002-9394
1879-1891
DOI:10.1016/j.ajo.2003.09.003