Author response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.

Abstract

We thank Drs. Brignol and Urtizberea for the comment on our article.1 We agree that retinal abnormalities are an interesting additional mode to study the penetrance of facioscapulohumeral dystrophy (FSHD). Indeed, we are currently performing an observational study on retinal abnormalities in another cohort of patients with FSHD. We acknowledge that a family-based approach would offer additional insights. Also, we agree that interdisciplinary collaborations enhance our understanding of the pathophysiology and optimal care for patients.