Ocular surface analysis in patients diagnosed with X-linked ichthyosis

Abstract

Seven patients (14 eyes) diagnosed with X-linked ichthyosis were studied using the Schirmer test, biomicroscopy, tonometry, endothelial count, optical coherence tomography, Pentacam®, ocular surface analyser, and confocal microscopy. The mean age was 33.83±20.17 years (range: 7-64 years). The most frequent findings in biomicroscopy were Meibomian glands dysfunction (83.3%) and stromal corneal opacities (33%). The tear break-up time was found shortened in 25% of the eyes. Confocal microscopy (both eyes) revealed activated keratocytes with hyper-reflective particles inside them in the anterior stroma and outside them in the posterior stroma. It is believed that the inclusion of the use of confocal microscopy will help in a better understanding of the corneal pathology associated with ichthyosis X, as well as new characteristics of these patients.

Keywords: Confocal microscopy; Corneal opacities; Depósitos hiperreflectivos; Disfunción de glándulas de Meibomio; Hyper-reflective deposits; Ictiosis X; Keratocytes; Meibomian gland dysfunction; Microscopia confocal; Opacidades corneales; Queratocitos; X ichthyosis.