Foveal sparing in Stargardt disease.

Purpose: To provide a clinical and genetic description of a patient cohort with Stargardt disease (STGD1) with identifiable foveal sparing.

Methods: Patients with retinal atrophy (defined as an absence of autofluorescence) that surrounded the fovea by at least 180° and did not include the fovea were defined as having foveal sparing; eyes with visual acuity (VA) worse than 20/200 were excluded. We reviewed the medical files and extracted data regarding medical history, VA, ophthalmoscopy, static perimetry, fundus photography, spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography (FA), fundus autofluorescence (FAF), and electroretinography (ERG).

Clinical and genetic characteristics of late-onset Stargardt's disease.

Objective: To describe the genotype and phenotype of patients with a late-onset Stargardt's disease (STGD1).

Design: Retrospective case series.

Participants: Twenty-one unrelated STGD1 patients with an age at onset of ≥45 years and ≥1 rare variant in the ABCA4 gene.