title: In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.
abstract: BACKGROUND
  Pre-Descemet corneal dystrophy (PDCD) is characterized by the presence of numerous, tiny, polymorphic opacities immediately anterior to Descemet membrane, which is a rare form of corneal stromal dystrophy and hard to be diagnosed. In vivo confocal microscopy (IVCM) is a useful tool to examine the minimal lesions of the cornea at the cellular level. In this article, we report a rare case of PDCD associated with X-linked ichthyosis and evaluate IVCM findings.
  
  
  METHODS
  We present a 34-year-old male Chinese patient with PDCD associated with X-linked ichthyosis. Slit-lamp biomicroscopy showed the presence of tiny and pleomorphic opacities in the posterior stroma immediately anterior to Descemet membrane bilaterally. IVCM revealed regular distributed hyperreflective particles inside the enlarged and activated keratocytes in the posterior stroma. Hyperreflective particles were also observed dispersedly outside the keratocytes in the anterior stroma. Dermatological examination revealed that the skin over the patient's entire body was dry and coarse, with thickening and scaling of the skin in the extensor side of the extremities. PCR results demonstrated that all ten exons and part flanking sequences of STS gene failed to produce any amplicons in the patient.
  
  
  CONCLUSIONS
  IVCM is useful for analyzing the living corneal structural changes in rare corneal dystrophies. We first reported the IVCM characteristics of PDCD associated with X-linked ichthyosis, which was caused by a deletion of the steroid sulfatase (STS) gene, confirmed by gene analysis.
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Shi
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China.
authors.forename: Xiao-Feng
authors.initials: XF
authors.lastname: Qi
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China.
authors.forename: Tao-Tao
authors.initials: TT
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Hao
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China.
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Li
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China.
authors.forename: Ling-Ling
authors.initials: LL
authors.lastname: Liang
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China.
authors.forename: Yi-Miao
authors.initials: YM
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China. cui3201@sina.com.
authors.forename: Zhi-Hua
authors.initials: ZH
authors.lastname: Cui
mesh_terms: D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D003319:Corneal Stroma / Q000473:pathology*; D003886:Descemet Membrane / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018613:Microscopy, Confocal
keywords: In vivo confocal microscopy; Pre-Descemet corneal dystrophy; Steroid sulfatase; X-linked ichthyosis