New correlations between ocular parameters and disease severity in Spanish patients with Gaucher's disease Type I.

ABSTRACT:

Background

Gaucher's disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity. The purpose of this study was to analyse ocular features in Spanish patients with Gaucher's disease type I, and to investigate their possible correlation with phenotypic and burden parameters of this entity.

Methods

This cross-sectional observational study compared parameters belonging to 18 eyes from 9 Spanish patients with Gaucher's disease Type I with 80 eyes from 40 healthy controls. Complete ophthalmological examination included choroidal and retinal thickness maps with swept source optical coherence tomography. Systemic analysis included genotype, plasmatic biomarkers, [ferritin, chemokine ligand 18 (CCL18) and

SUBMITTER: Esteban O 

PROVIDER: S-EPMC8648113 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature