PURPOSE: To determine longitudinal changes in fundus appearance and visual function in patients with Stargardt with at least one allelic mutation (Gly1961Glu) in the ABCA4 gene. METHODS: Sixteen patients with a diagnosis of Stargardt disease and a Gly1961Glu mutation were enrolled. All patients underwent a complete ocular examination including best corrected visual acuity, Goldmann visual field (GVF), and full-field ERG examinations. The percentage of patients who showed at least a doubling in the log of the minimum angle of visual resolution (logMAR) between their initial and most recent visits was determined, as was the percentage of patients who showed a doubling in the size of the central scotoma over this duration. RESULTS: Nine patients had at least a doubling of the logMAR visual acuity in their right eyes and 10 patients in their left eyes, over a mean follow-up (FU) period of 18.6 years. Of 15 patients, 46.7% had equal to or more than a doubling of the central scotoma area in response to a II2e test stimulus in the right eye and 60.0% in the left eyes. Among 10 patients whose ERGs were initially normal for rod and cone responses, 8 remained normal at their most recent FU visit. CONCLUSIONS: In these patients with Stargardt disease and a Gly1961Glu mutation, most showed a clinical phenotype characterized by fundus changes localized to the foveal and parafoveal regions, normal ERG amplitudes, absence of a silent or masked choroid, and a mean age at initial presentation in the third decade.
PURPOSE: To determine longitudinal changes in fundus appearance and visual function in patients with Stargardt with at least one allelic mutation (Gly1961Glu) in the ABCA4 gene. METHODS: Sixteen patients with a diagnosis of Stargardt disease and a Gly1961Glu mutation were enrolled. All patients underwent a complete ocular examination including best corrected visual acuity, Goldmann visual field (GVF), and full-field ERG examinations. The percentage of patients who showed at least a doubling in the log of the minimum angle of visual resolution (logMAR) between their initial and most recent visits was determined, as was the percentage of patients who showed a doubling in the size of the central scotoma over this duration. RESULTS: Nine patients had at least a doubling of the logMAR visual acuity in their right eyes and 10 patients in their left eyes, over a mean follow-up (FU) period of 18.6 years. Of 15 patients, 46.7% had equal to or more than a doubling of the central scotoma area in response to a II2e test stimulus in the right eye and 60.0% in the left eyes. Among 10 patients whose ERGs were initially normal for rod and cone responses, 8 remained normal at their most recent FU visit. CONCLUSIONS: In these patients with Stargardt disease and a Gly1961Glu mutation, most showed a clinical phenotype characterized by fundus changes localized to the foveal and parafoveal regions, normal ERG amplitudes, absence of a silent or masked choroid, and a mean age at initial presentation in the third decade.
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: Sarwar Zahid; Thiran Jayasundera; William Rhoades; Kari Branham; Naheed Khan; Leslie M Niziol; David C Musch; John R Heckenlively Journal: Am J Ophthalmol Date: 2012-12-05 Impact factor: 5.258
Authors: Frederick T Collison; Winston Lee; Gerald A Fishman; Jason C Park; Jana Zernant; J Jason McAnany; Rando Allikmets Journal: Retina Date: 2019-12 Impact factor: 4.256