Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Joshua L HagedornTaylor M DunnSajag BhattaraiCarrie StephanKatherine D MathewsWanda PfeiferArlene V DrackPublished in: Documenta ophthalmologica. Advances in ophthalmology (2022)
Abnormal ON/OFF bipolar cell responses and sawtooth 30 Hz flicker waveforms on full-field electroretinogram may be specific for LGMDR9. If confirmed in a larger population and if related to disease stage, these tests are potential biomarkers which could be useful as endpoints in clinical treatment trials.