Two brothers with gelatinous drop-like dystrophy at different stages of the disease: Role of mutational analysis

Shigeo Yoshida, Yuji Kumano, Ayako Yoshida, Shin Ichiro Numa, Nobuyuki Yabe, Toshio Hisatomi, Teruo Nishida, Tatsuro Ishibashi, Takao Matsui

研究成果: Contribution to journalArticle査読

21 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)830-832
ページ数3
ジャーナルAmerican journal of ophthalmology
133
6
DOI
出版ステータス出版済み - 2002

All Science Journal Classification (ASJC) codes

  • 眼科学

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