Peripapillary Dark Choroid Ring as a Helpful Diagnostic Sign in Advanced Stargardt Disease

PURPOSE: To investigate the prevalence of a peripapillary dark choroid ring on fluorescein angiography (FA) and the associated clinical features in patients with Stargardt disease. DESIGN: Retrospective review of 135 patients with Stargardt disease. METHODS: The presence or absence of a peripapillary dark choroid ring on FA was noted and was compared with patient demographics and clinical features. RESULTS: Thirty-seven percent (50/135) had a peri-papillary dark choroid ring on FA. When evaluated in subgroups, this sign was present in 41% (9/22) of patients with 2 causative ABCA4 mutations, in 28% (5/18) of patients with 1 causative ABCA4 mutation and a clinical diagnosis of Stargardt disease, and in 38% (36/95) of patients with a clinical diagnosis of Stargardt disease pending mutational analysis. Ninety-four percent (44/47) of patients for whom mutational testing confirmed the presence of ABCA4 mutations demonstrated a dark choroid sign. The peripapillary dark choroid ring sign was associated with diffuse flecks (P < .001), worse logarithm of the minimal angle of resolution visual acuity (P =.03), larger central scotoma size (P = .0146), and the presence of complete macular atrophy (P = .0017) compared with patients without this sign. CONCLUSIONS: The presence of a peripapillary dark choroid ring on FA should prompt further evaluation for Stargardt disease by examination of peripheral retinal FA images for a dark choroid sign, followed by subsequent ABCA4 mutation screening. (Am J Ophthalmol 2010;149: 656-660. (C) 2010 by Elsevier Inc. All rights reserved.)