Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis.
OBJECTIVE
To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines.


METHODS
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.
Yoshida
Shigeo
S
Department of Ophthalmology, Kyushu University Graduate School of Medicine, Fukuoka, Japan. yosida@med.kyushu-u.ac.jp
Yoshida
Ayako
A
Nakao
Shintaro
S
Emori
Aki
A
Nakamura
Takao
T
Fujisawa
Kimihiko
K
Kumano
Yuji
Y
Ishibashi
Tatsuro
T
D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D003318:Corneal Opacity / Q000175:diagnosis / Q000235:genetics; D003319:Corneal Stroma / Q000473:pathology; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014792:Visual Acuity; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein