Case ReportPre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS GeneHung, Crystal MD; Ayabe, Reed I. BA; Wang, Cynthia; Frausto, Ricardo F. BA; Aldave, Anthony J. MDAuthor Information Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA. Reprints: Anthony J. Aldave, The Jules Stein Eye Institute, 100 Stein Plaza, University of California, Los Angeles, Los Angeles, CA 90095-7003 (e-mail: [email protected]). Supported by the National Eye Institute grant 1R01 EY022082 (A.J.A.), an unrestricted grant from Research to Prevent Blindness, and a grant from the Gerald Oppenheimer Family Foundation Center for the Prevention of Eye Disease (A.J.A.). The authors have no conflicts of interest to disclose. Received January 14, 2013 Accepted April 24, 2013 Cornea: September 2013 - Volume 32 - Issue 9 - p 1283-1287 doi: 10.1097/ICO.0b013e318298e176 Buy Metrics Abstract Purpose: To report the association of X-linked ichthyosis and pre-Descemet corneal dystrophy with a deletion of the steroid sulfatase gene (STS) detected with microarray-based comparative genomic hybridization (aCGH). Methods: A slit-lamp biomicroscopic examination and cutaneous examination were performed, after which a saliva sample was collected as a source of genomic DNA. Polymerase chain reaction amplification of each of the 10 exons of STS was performed, as was aCGH on genomic DNA to detect copy number variation. Results: The slit-lamp examination revealed punctate opacities in the posterior corneal stroma of each eye. The cutaneous examination demonstrated scaling and flaking skin of the arms and legs. Polymerase chain reaction amplification using primers designed to amplify each of the 10 exons of STS failed to produce any amplicons. Subsequently, aCGH performed on genomic DNA revealed a microdeletion in the Xp22.31 cytoband of approximately 1.7 megabases, containing STS. Conclusions: The identification of a microdeletion within Xp22.3 containing STS with aCGH in an individual with suspected pre-Descemet corneal dystrophy and X-linked ichthyosis demonstrates the clinical utility of copy number variation analysis in confirming a presumptive clinical diagnosis. Copyright © 2013 Wolters Kluwer Health, Inc. All rights reserved.