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. Copyright 2010 Elsevier Inc. All rights reserved.
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. Copyright 2010 Elsevier Inc. All rights reserved.
Authors: Tomas R Burke; Gerald A Fishman; Jana Zernant; Carl Schubert; Stephen H Tsang; R Theodore Smith; Radha Ayyagari; Robert K Koenekoop; Allison Umfress; Maria Laura Ciccarelli; Alfonso Baldi; Alessandro Iannaccone; Frans P M Cremers; Caroline C W Klaver; Rando Allikmets Journal: Invest Ophthalmol Vis Sci Date: 2012-07-03 Impact factor: 4.799
Authors: Tamara L Lenis; Shanta Sarfare; Zhichun Jiang; Marcia B Lloyd; Dean Bok; Roxana A Radu Journal: Proc Natl Acad Sci U S A Date: 2017-03-27 Impact factor: 11.205
Authors: Artur V Cideciyan; Malgorzata Swider; Tomas S Aleman; Willam J Feuer; Sharon B Schwartz; Robert C Russell; Janet D Steinberg; Edwin M Stone; Samuel G Jacobson Journal: Invest Ophthalmol Vis Sci Date: 2012-02-21 Impact factor: 4.799
Authors: Peter Y Zhao; Maria Fernanda Abalem; Daniel Nadelman; Cynthia X Qian; Kari Branham; Dana Schlegel; Naheed Khan; John R Heckenlively; Thiran Jayasundera Journal: Am J Ophthalmol Date: 2017-12-27 Impact factor: 5.258
Authors: Tomas R Burke; David W Rhee; R Theodore Smith; Stephen H Tsang; Rando Allikmets; Stanley Chang; Margot A Lazow; Donald C Hood; Vivienne C Greenstein Journal: Invest Ophthalmol Vis Sci Date: 2011-10-10 Impact factor: 4.799
Authors: Maria Fernanda Abalem; Cynthia X Qian; Kari Branham; Dana Schlegel; Abigail T Fahim; Naheed W Khan; John R Heckenlively; K Thiran Jayasundera Journal: Ophthalmic Genet Date: 2017-07-20 Impact factor: 1.803