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Multimodal Imaging of Pre-Descemet Corneal Dystrophy Associated With X-Linked Ichthyosis and Deletion of the STS Gene.
Boere, Payton M; Bonnet, Clemence; Frausto, Ricardo F; Fung, Simon S M; Aldave, Anthony J.
Affiliation
  • Boere PM; Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA; and.
  • Bonnet C; Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA; and.
  • Frausto RF; Ophthalmology Department, AP-HP, Cochin Hospital, Paris University, Paris, France.
  • Fung SSM; Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA; and.
  • Aldave AJ; Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA; and.
Cornea ; 39(11): 1442-1445, 2020 Nov.
Article in En | MEDLINE | ID: mdl-32482962
ABSTRACT

PURPOSE:

To investigate the presence of pre-Descemet corneal dystrophy (PDCD) in association with X-linked ichthyosis (XLI) in an 11-year-old boy using multimodal imaging and genetic analysis.

METHODS:

Corneal opacities were examined and imaged with slit-lamp biomicroscopy, anterior segment optical coherence tomography, noncontact specular microscopy, and in vivo confocal microscopy. Cytogenomic array analysis was performed using genomic DNA isolated from the patient.

RESULTS:

Corneal opacities characteristic of PDCD located in the posterior corneal stroma just anterior to Descemet membrane were identified by slit-lamp biomicroscopy. A pre-Descemet hyper-reflective line, consistent with these opacities, was seen with anterior segment optical coherence tomography. Scheimpflug tomography revealed a bimodal peak light scattering. In vivo confocal microscopy findings were unremarkable. Copy number analysis identified a 4389 kbp hemizygous deletion on the X chromosome (chr. X 6,540,898-8,167,604), resulting in the deletion of 4 genes, including the known locus of XLI, the STS gene.

CONCLUSIONS:

This report demonstrates that PDCD-associated XLI may present in children and that the diagnosis may be confirmed through multimodal imaging in conjunction with genetic analysis.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Corneal Dystrophies, Hereditary / Ichthyosis, X-Linked / Microscopy, Confocal / Steryl-Sulfatase / Tomography, Optical Coherence / Multimodal Imaging / Slit Lamp Microscopy Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Cornea Year: 2020 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Corneal Dystrophies, Hereditary / Ichthyosis, X-Linked / Microscopy, Confocal / Steryl-Sulfatase / Tomography, Optical Coherence / Multimodal Imaging / Slit Lamp Microscopy Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Cornea Year: 2020 Document type: Article