Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies

摘要: PurposeTo investigate the clinical and genotypic differences in the spectrum of ABCA4-associated retinopathies (ABCA4Rs).DesignObservational, cross sectional case series.ParticipantsSixty-six patients (132 eyes) carrying biallelic ABCA4 variants.MethodsPatients underwent visual acuity measurement and multimodal imaging. Clinical records were reviewed for age at onset, presenting symptoms, genetic variants, and electroretinogram (ERG). Each eye was assigned to a phenotype based on age at onset, imaging and ERG: cone dystrophy-bull's-eye maculopathy (CD-BEM, 40 eyes), cone-rod dystrophy (CRD, 12 eyes), Stargardt disease (SD, 28 eyes), late-onset SD (LO-SD, 38 eyes), and fundus flavimaculatus (14 eyes). Images were analyzed for: peripapillary sparing, retinal pigment epithelium (RPE) atrophy (definitely decreased autofluorescence, DDAF), flecks patterns using autofluorescence; type of …