CLINICAL, GENOTYPIC AND IMAGING CHARACTERISTICS OF DIFFERENT ABCA4 RETINOPATHIES

摘要: Purpose: A comprehensive characterization of ABCA4 retinopathies is currently missing. The aim of this study is to report the demographic, genotypic and imaging characteristics in its different phenotypesMethods: Observational, cross-sectional study. 66 patients with biallelic ABCA4 variants underwent: visual acuity (VA), color photograph, optical coherence tomography (OCT), fundus autofluorescence, OCT angiography. Clinical notes were reviewed for age at onset (AO), presenting symptoms and electrophysiology (ERG). Variants were classified as missense, nonsense, structural and splicing-site. Each eye was assigned to one phenotype based on AO, imaging and ERGs: cone dystrophy/bull’s eye maculopathy (CD, 20), cone-rod dystrophy (CRD, 6), Stargardt disease (SD, 14), late-onset SD (LO-SD, 19), fundus flavimaculatus (FF, 7). Images were analyzed for: peripapillary sparing, type of atrophy according to …