Spectral Domain Optical Coherence Tomography Findings in Myotonic Dystrophy

Myotonic dystrophy type 1 (DM1) is the most frequent adult-onset muscular dystrophy with an incidence of approximately 1:8000 among Caucasians. The disease, inherited as an autosomal dominant trait, is caused by an abnormal expansion of a CTG trinucleotide repeat located in the 3 ′ untranslated region of the DM1 protein kinase gene, on chromosome 19p35 [1,2]. DM1 is a multisystem disorder, which affects, beside the skeletal muscle, other organs and tissues, including the eye, with premature cataracts, low intraocular pressure (IOP) and retinal abnormalities [3,4].

Source: Neuromuscular Disorders - November 28, 2019 Category: Neurology Authors: Edoardo Abed, Guglielmo D'Amico, Salvatore Rossi, Alessia Perna, Maria Laura Ester Bianchi, Gabriella Silvestri Source Type: research