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Yun, Na, Kim, Kim, and Hwang: Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis
Case Report

Journal of the Korean Ophthalmological Society 2017; 58(8): 993-997.

Published online: 16 August 2017

DOI: https://doi.org/10.3341/jkos.2017.58.8.993

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

Jun Myeong Yun, MD1, Kyung Sun Na, MD, PhD2, Myung Shin Kim, MD, PhD3, Hyun Seung Kim, MD, PhD2, Hyung Bin Hwang, MD, PhD1

1Department of Ophthalmology, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea.

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.

Address reprint requests to Hyung Bin Hwang, MD, PhD. Department of Ophthalmology, The Catholic University of Korea Incheon St. Mary's Hospital, #56 Dongsu-ro, Bupyeong-gu, Incheon 21431, Korea. Tel: 82-32-280-5110, Fax: 82-32-280-5118, leoanzel@catholic.ac.kr

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

©2017 The Korean Ophthalmological Society

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Cornea, Steroid sulfatase gene, X-linked ichthyosis

Figures and Tables

Figure 1

Histopathological picture of patient's skin. The black arrowheads indicate hyperkeratosis (Hematoxylin-eosin stain; original magnification: ×100).

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Figure 2

Slit-lamp microscopic photograph of affected patient. (A) Slit-lamp photograph of the cornea in diffuse illumination show no definite corneal lesion. (B) Slit-lamp photograph in slit illumination show diffuse small punctate opacities (red dot line circle) observed in stroma and anterior to Descemet's membrane.

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Figure 3

All of specular microscopy show normal endothelial cell density and morphology. (A) Twin older brother. (B) Twin younger brother. CD =cell density; SD = standard deviation; CV = coefficient of variation; 6A = percentage of hexagonal cell; AVE = average cell area; MAX = maximum cell area; MIN = minimum cell area; R = right; L = left.

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Figure 4

The Multiplex ligation-dependent probe amplification (MLPA) analysis of patient. (A) Twin older brother, and (B) Twin younger brother. Left graph (blue graph-patient, red graph-normal control) and right scatter plot (in dot line box) of each case show deletion of STS from exon 1 to exon 10 except exon 3 and contiguous HDHD1A upstream deletion. STS, steroid sulfatase.

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Notes

Conflicts of Interest The authors have no conflicts to disclose.

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