患有不同疾病阶段的胶样滴状营养不良的两兄弟：突变分析的作用
Two brothers with gelatinous drop-like dystrophy at different stages of the disease: role of mutational analysis.
作者信息
Yoshida Shigeo, Kumano Yuji, Yoshida Ayako, Numa Shin-ichiro, Yabe Nobuyuki, Hisatomi Toshio, Nishida Teruo, Ishibashi Tatsuro, Matsui Takao
机构信息
Department of Ophthalmology, Kyushu University Graduate School of Medicine, (S.Y., A.Y., T.H., T.I.), Fukuoka, Japan
出版信息
Am J Ophthalmol. 2002 Jun;133(6):830-2. doi: 10.1016/s0002-9394(02)01407-1.
PURPOSE
A report of two Japanese brothers with gelatinous drop-like corneal dystrophy, one with and one without the typical gelatinous drop-like region.
DESIGN
Interventional case report and observational case report.
METHODS
After penetrating keratoplasty, the corneal button, right eye, of the elder brother, 39 years of age, was stained and examined by microscopy. The M1S1 and BIGH3 genes were examined for mutations using the polymerase chain reaction and direct sequencing. Corneal abnormalities in the younger brother, 37 years of age, were observed.
RESULTS
The elder brother had bilateral gelatinous prominences and band-shaped corneal opacities, whereas the younger brother had only bilateral band-shaped opacities. Histologically, corneal deposits beneath the epithelium stained with Congo red. Molecular genetic analysis revealed that M1S1 was homozygously mutated in both brothers (Q118X).
CONCLUSION
The Q118X mutation of the M1S1 gene can produce either a gelatinous drop-like region or band-shaped opacities.
目的
报道两名患有胶冻状滴状角膜营养不良的日本兄弟，其中一人有典型的胶冻状滴状区域，另一人没有。
设计
介入性病例报告和观察性病例报告。
方法
对39岁哥哥的右眼穿透性角膜移植术后的角膜植片进行染色并显微镜检查。使用聚合酶链反应和直接测序检测M1S1和BIGH3基因的突变。观察37岁弟弟的角膜异常情况。
结果
哥哥有双侧胶冻状隆起和带状角膜混浊，而弟弟只有双侧带状混浊。组织学上，上皮下的角膜沉积物经刚果红染色。分子遗传学分析显示，两兄弟的M1S1均为纯合突变（Q118X）。
结论
M1S1基因的Q118X突变可导致胶冻状滴状区域或带状混浊。
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