The pattern ERG in Best's disease

Abstract

The aim of this study was to assess inner retinal function in patients with Best's disease using the pattern ERG (PERG). Nine patients with Best's disease, who had good visual acuity, were studied. Five of the nine had abnormal PERGs. All five had some reduction in central visual acuity. We believe that the abnormal PERGs in these patients represents photoreceptor cell loss which is occurring at an early stage in Best's disease.

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

“…This patient was also found to have the same heterozygous variant in BEST1. EOG, although affected by the patient's poor fixation, showed diminished light rise bilaterally and ffERG revealed preserved scotopic rod-specific responses with a low B to A ratio, suggesting inner retinal dysfunction consistent with published literature (21)(22)(23), and diminished photopic-cone single flash and 30Hz flicker responses. While ffERG findings are often normal in early BVMD and Stargardt disease, diminished scotopic and photopic responses can be expected in later stage Stargardt disease (20).…”