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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)2021-2023
Number of pages3
JournalJapanese Journal of Clinical Ophthalmology
Volume59
Issue number13
Publication statusPublished - Dec 1 2005

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Molecular Biology
Corneal Stroma
Photophobia
Threonine
Foreign Bodies
Codon
Alanine
Cornea
Genes
Visual Acuity
Fats
Mutation
Corneal type 1 Macular dystrophy

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Numa, S. I., Yoshida, S., Kumano, Y., Matsui, T., Kawano, Y. I., Nishida, T., ... Ishibashi, T. (2005). A case of macular corneal dystrophy diagnosed by molecular genetic analysis. Japanese Journal of Clinical Ophthalmology, 59(13), 2021-2023.

A case of macular corneal dystrophy diagnosed by molecular genetic analysis. / Numa, Shin Ichiro; Yoshida, Shigeo; Kumano, Yuji; Matsui, Takaaki; Kawano, Yoh Ichi; Nishida, Teruo; Yamaji, Yoko; Ishibashi, Tatsuro.

In: Japanese Journal of Clinical Ophthalmology, Vol. 59, No. 13, 01.12.2005, p. 2021-2023.

Research output: Contribution to journalArticle

Numa, SI, Yoshida, S, Kumano, Y, Matsui, T, Kawano, YI, Nishida, T, Yamaji, Y & Ishibashi, T 2005, 'A case of macular corneal dystrophy diagnosed by molecular genetic analysis', Japanese Journal of Clinical Ophthalmology, vol. 59, no. 13, pp. 2021-2023.
Numa SI, Yoshida S, Kumano Y, Matsui T, Kawano YI, Nishida T et al. A case of macular corneal dystrophy diagnosed by molecular genetic analysis. Japanese Journal of Clinical Ophthalmology. 2005 Dec 1;59(13):2021-2023.
Numa, Shin Ichiro ; Yoshida, Shigeo ; Kumano, Yuji ; Matsui, Takaaki ; Kawano, Yoh Ichi ; Nishida, Teruo ; Yamaji, Yoko ; Ishibashi, Tatsuro. / A case of macular corneal dystrophy diagnosed by molecular genetic analysis. In: Japanese Journal of Clinical Ophthalmology. 2005 ; Vol. 59, No. 13. pp. 2021-2023.
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