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

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

Kyushu University Hospital

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	2021-2023
Number of pages	3
Journal	Japanese Journal of Clinical Ophthalmology
Volume	59
Issue number	13
Publication status	Published - 2005

All Science Journal Classification (ASJC) codes

Ophthalmology

Cite this

@article{a0f0618b9c724f6a9b79b02e97dbde70,

title = "A case of macular corneal dystrophy diagnosed by molecular genetic analysis",

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.",

author = "Numa, {Shin Ichiro} and Shigeo Yoshida and Yuji Kumano and Takaaki Matsui and Kawano, {Yoh Ichi} and Teruo Nishida and Yoko Yamaji and Tatsuro Ishibashi",

year = "2005",

language = "English",

volume = "59",

pages = "2021--2023",

journal = "Japanese Journal of Clinical Ophthalmology",

issn = "0370-5579",

publisher = "Igaku-Shoin Ltd",

number = "13",

}

TY - JOUR

T1 - A case of macular corneal dystrophy diagnosed by molecular genetic analysis

AU - Numa, Shin Ichiro

AU - Yoshida, Shigeo

AU - Kumano, Yuji

AU - Matsui, Takaaki

AU - Kawano, Yoh Ichi

AU - Nishida, Teruo

AU - Yamaji, Yoko

AU - Ishibashi, Tatsuro

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=30344485412&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=30344485412&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:30344485412

SN - 0370-5579

VL - 59

SP - 2021

EP - 2023

JO - Japanese Journal of Clinical Ophthalmology

JF - Japanese Journal of Clinical Ophthalmology

IS - 13

ER -

A case of macular corneal dystrophy diagnosed by molecular genetic analysis

Abstract

All Science Journal Classification (ASJC) codes

Other files and links

Fingerprint

Cite this