Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that lead to muscle degeneration.
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that lead to muscle degeneration and may be associated with cognitive impairment and a variety of central comorbidities. Patients with DMD may develop proliferative retinopathy, cataracts, ERG abnormalities, impaired contrast sensitivity, color vision losses and high thresholds for detection of visual stimuli during dark adaptation. In an article published in Progress in Retinal and Eye Research, Cyrille Vaillend (Institut des Neurosciences Paris-Saclay, Neuro-PSI, Orsay) and his international dystrophinopathy research network (France, Germany, Brazil, Hungary) present the first review of this research field. This comprehensive review describes the current knowledge on dystrophin expression, the putative molecular, structural and physiological properties of retinal dystrophins, and the main clinical implications associated with dystrophin loss in DMD patients and animal models of DMD. The current data and working hypotheses justify future research on retinal dystrophins to increase our understanding of dystrophin function in the central nervous system in general and to unveil new retinal mechanisms and therapeutic avenues for retinal diseases.
Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy. Mirella Telles Salgueiro Barboni, Anneka Joachimsthaler, Michel J Roux, Zoltán Zsolt Nagy, Dora Fix Ventura, Alvaro Rendon, Jan Kremers, Cyrille Vaillend.