G.P.18.05 Myopathy and retinopathy are novel features in a patient with Mohr-Tranebjaerg syndrome

Abstract

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder, characterized by childhood onset of sensorineural hearing loss, dystonia, mental retardation, behavioural disturbances, visual loss, and spasticity, due to mutations in the deafness-dystonia peptide-1 gene (DDP1/TIMM8A). Most mutations cause protein truncation. We studied a 27-year-old male who suffered at 2 years of age bilateral hearing loss and recurrent infections leading to a diagnosis of Bruton agammaglobulinemia. At age 15 a progressive visual loss was noted.