无典型格子样线条的Ⅰ型格子状角膜营养不良：突变分析的作用
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis.
作者信息
Yoshida Shigeo, Yoshida Ayako, Nakao Shintaro, Emori Aki, Nakamura Takao, Fujisawa Kimihiko, Kumano Yuji, Ishibashi Tatsuro
机构信息
Department of Ophthalmology, Kyushu University Graduate School of Medicine, Fukuoka, Japan.
出版信息
Am J Ophthalmol. 2004 Mar;137(3):586-8. doi: 10.1016/j.ajo.2003.09.003.
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.
目的
描述一名缺乏典型格状线的日本I型格子状角膜营养不良（LCD I）患者。
设计
介入性病例报告。
方法
对一名54岁女性进行了全面的眼科检查，并通过直接基因组测序分析了TGFBI基因。
结果
患者双侧中央角膜基质弥漫性混浊，但无格状线和角膜上皮糜烂。分子遗传学分析确定了一个与I型格子状角膜营养不良相关的杂合错义改变（C417T），该改变将TGFBI基因中第124密码子的精氨酸变为半胱氨酸（R124C）。
结论
该患者的角膜似乎代表晚期I型格子状角膜营养不良，这表明存在修饰基因相互作用、角膜老化过程中的环境因素或两者兼而有之。TGFBI的分子遗传学分析可为非典型角膜外观患者提供快速、准确的诊断。
Zotero 插件