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 peripapillary 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.