Multimodal Imaging of Pre-Descemet Corneal Dystrophy Associated With X-Linked Ichthyosis and Deletion of the STS Gene.
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.
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