Electrophysiolocal findings in Mohr-Tranebjærg syndrome

Abstract

Mohr-Tranebjaerg syndrome (MTS) is an X-liked recessive rare syndrome also known as deafness-dystonia syndrome. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes they are accompanied by cortical deterioration of vision and mental deterioration. The purpose of this paper is to illustrate a very interesting case of Mohr-Tranebjaerg syndrome. A 24-year-old italian man with Mohr-Tranebjaerg syndrome underwent full field electroretinography (ERG) and visual evoked potentials (VEPs). Fundus examination showed apparently normal retina with pallor of the optic disc. Pattern reversal VEP and flash VEP responses were non-recordable. ERG showed amplitude reduction of the fotopic, scotopic and 30 Hz flicker responses revealing generalized retinal dysfunction with reduction of cone and rod responses. The progressive neurodegeneration in Mohr-Tranebjaerg syndrome can be also associated with a retinal degeneration.