USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.

ABSTRACT: Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width. The aim of this study was to retrospectively determine RP stage in a cohort of patients with USH2A gene variants and to correlate the results with age, as well as additional functional and morphological parameters. In 26 patients with established USH2A genotype, RP was staged according to recent international standards. The cumulative staging sco

SUBMITTER: Falsini B 

PROVIDER: S-EPMC7912870 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature