Electrophysiologic findings in Greek patients with Stargardt disease

Abstract

AbstractPurpose To characterize the clinical and electroretinographic features of Greek patients with Stargardt disease exhibiting mutations in the ABCA4 gene.Methods We retrospectively reviewed the charts of the patients with the clinical diagnosis of Stargardt disease seen at the department of ophthalmology of the University Hospital of Crete. The diagnosis of Stargardt disease was established based on clinical examination (fundoscopic evidence of retinal flecks) and genetic testing. Parameters evaluated included BCVA, age of onset, findings from fundus photographs, but also findings from the ISCEV standard full field ERG.Results Twelve patients were included in our study. Median age was 29 years (range: 11‐59)and BCVA ranged from 2.0 τ[omicron] 0.2 logMAR. Fundoscopic findings included mild, mottled hypopigmentary changes in one patient, a bull’s‐eye‐appearing macular lesion in four patients and an atrophic macular lesion in seven patients. Of the 12 patients , four patients showed normal scotopic and photopic retinal responses while, eight patients showed abnormal photopic and scotopic function.Conclusion This is the first report of the electrophysiologic findings of Greek patients with Stargardt disease. Our cohort exhibited a wide range of Electrophysiologic abnormalities. These results provides useful baseline data for the longitudinal monitoring of disease progression.