A case of macular corneal dystrophy diagnosed by molecular genetic analysis

Shin Ichiro Numa, Shigeo Yoshida, Yuji Kumano, Takaaki Matsui, Yoh Ichi Kawano, Teruo Nishida, Yoko Yamaji, Tatsuro Ishibashi

研究成果: Contribution to journalArticle査読

抄録

A 55-year-old woman presented with photophobia and foreign body sensation. Her corrected visual acuity was 0.5 right and 0.7 left. Both eyes showed numerous opaque patches simulating mutton-fat deposits. They were mainly located in the peripheral cornea. The corneal stroma showed diffuse opacity. The findings and clinical course were suggestive of corneal dystrophy rather than inflammatory or secondary degenerations. Analysis of CHST6 gene in her circulating blood showed homozygous mutation at codon 217 in the CHST6 gene, which is alanine-to-threonine substitution, A 217T. These molecular genetic findings led to the diagnosis of macular corneal dystrophy.

本文言語英語
ページ(範囲)2021-2023
ページ数3
ジャーナルJapanese Journal of Clinical Ophthalmology
59
13
出版ステータス出版済み - 2005

All Science Journal Classification (ASJC) codes

  • 眼科学

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