SD-OCT analysis in syndromic and non-syndromic forms of retinitis pigmentosa due to USH2A gene mutations

This study aims to analyze macular structure by using SD-OCT in a cohort of patients affected by autosomal recessive retinitis pigmentosa and Usher syndrome, due to genetic variants in USH2A gene, and to correlate OCT parameters with functional and genetic data. Methods: The subjects of this study were 92 patients, 46 syndromic (Ush2) and 46 non-syndromic (arRP), with clinical and genetic diagnosis of USH2A-related retinal dystrophy, who underwent a complete ophthalmic examination and spectral domain OCT analysis. The study focused on evaluating the differences between the two groups in the following parameters: best corrected visual acuity (BCVA), ellipsoid zone width (EZ), presence of epiretinal membrane (ERM) and cystic macular lesions (CML). Variants in USH2A gene were divided in 3 categories, according to the expected impact (low/high) at protein level of the different variants on each allele. Results: BCVA and EZ width were significantly lower in Ush2 than in arRP patients (p
Source: Ophthalmic Research - Category: Opthalmology Source Type: research