RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.

ABSTRACT:

Purpose

To investigate the course of inherited retinal degenerations (IRD) due to mutations in the RPE65 gene.

Methods

This longitudinal multicentric retrospective chart-review study was designed to collect best corrected visual acuity (BCVA), Goldman visual field, optical coherence tomography (OCT), and electroretinography (ERG) measurements. The data, including imaging, were collected using an electronic clinical research form and were reviewed at a single center to improve consistency.

Results

From an overall cohort of 60 Italian patients with RPE65-associated IRD, 43 patients (mean age, 27.8 ± 19.7 years) were included and showed a mean BCVA of 2.0 ± 1.0 logMAR. Time-to-event analysis revealed a median age of 33.8 years and 41.4 years to reach low vision and blind

SUBMITTER: Testa F 

PROVIDER: S-EPMC8822366 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature