Editors' note: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

Abstract

In “A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1,” Wohlgemuth et al. identified many asymptomatic mutation carriers by careful examination of facial and shoulder muscles, noting that such recognition is essential for participant selection for future trials. In response, Drs. Brignol and Urtizberea suggest that examining for often-asymptomatic retinal vasculopathy using techniques like optical coherence tomography angiography may help further characterize genotype–phenotype correlations in facioscapulohumeral muscular dystrophy. They call for greater collaboration between neurologists and ophthalmologists in this regard. In their reply, the authors express agreement and note that they are currently pursuing an observational study of retinal abnormalities in another cohort. In “A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1,” Wohlgemuth et al. identified many asymptomatic mutation carriers by careful examination of facial and shoulder muscles, noting that such recognition is essential for participant selection for future trials. In response, Drs. Brignol and Urtizberea suggest that examining for often-asymptomatic retinal vasculopathy using techniques like optical coherence tomography angiography may help further characterize genotype–phenotype correlations in facioscapulohumeral muscular dystrophy.