Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis.
10.3341/jkos.2017.58.8.993
- Author:
Jun Myeong YUN
1
;
Kyung Sun NA
;
Myung Shin KIM
;
Hyun Seung KIM
;
Hyung Bin HWANG
Author Information
1. Department of Ophthalmology, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea. leoanzel@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Cornea;
Steroid sulfatase gene;
X-linked ichthyosis
- MeSH:
Cornea;
Corneal Opacity;
Diagnosis;
Extremities;
Gene Deletion;
Humans;
Ichthyosis*;
Multiplex Polymerase Chain Reaction;
Pruritus;
Siblings;
Skin;
Steryl-Sulfatase;
Twins, Monozygotic
- From:Journal of the Korean Ophthalmological Society
2017;58(8):993-997
- CountryRepublic of Korea
- Language:Korean
-
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.
