Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis.

Yun, Jun Myeong; Na, Kyung Sun; Kim, Myung Shin; Kim, Hyun Seung; Hwang, Hyung Bin

doi:2017.58.8.993

J Korean Ophthalmol Soc > Volume 58(8); 2017 > Article

Case Report

Journal of the Korean Ophthalmological Society 2017;58(8):993-997.
DOI: https://doi.org/10.3341/jkos.2017.58.8.993 Published online August 15, 2017.

Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis.

Jun Myeong Yun, Kyung Sun Na, Myung Shin Kim, Hyun Seung Kim, Hyung Bin Hwang

¹Department of Ophthalmology, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea. leoanzel@catholic.ac.kr
²Department of Ophthalmology and Visual Science, Yeouido St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
³Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

유전자 분석을 통하여 증명된 반성유전 어린선에서의 전부 데스메막 이영양증 2예

윤준명¹⋅나경선²⋅김명신³⋅김현승²⋅황형빈¹

가톨릭대학교 의과대학 인천성모병원 안과학교실¹, 가톨릭대학교 의과대학 여의도성모병원 안과 및 시과학교실², 가톨릭대학교 의과대학 서울성모병원 진단검사의학교실³

Correspondence: Hyung Bin Hwang,
Email: leoanzel@catholic.ac.kr

Received: 2 May 2017 • Revised: 19 June 2017 • Accepted: 24 July 2017

Abstract

PURPOSE
To report the first case of steroid sulfatase (STS) gene deletion, confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis in identical twins with pre-Descemet corneal dystrophy associated with X-linked ichthyosis. CASE SUMMARY: 19-year old identical twin brothers with itching senses and hereditary thick scaly skin of the extremity and trunk visited our dermatologic clinic. Upon visiting, an ophthalmologic consultation with anterior segment examination showed diffuse punctate corneal opacities in the pre-Descemet layer. On MLPA analysis of the identical twin brothers, a definitive diagnosis of X-linked ichthyosis was made by identifying STS gene deletion. CONCLUSIONS: Identification of the deletion and mutation of the involved gene using gene analysis can provide insight to diagnosis and clinical characteristics of X-linked ichthyosis.

Key Words: Cornea;Steroid sulfatase gene;X-linked ichthyosis