The Role of Visual Electrophysiology in Mucopolysaccharidoses

Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortexfunction. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosisregistered in the neurophysiological database of our institution were reviewed retrospectively. Ten patients were on enzyme replacement therapy, 2 underwent bone marrow transplantation, one also keratoplasty. Changes in the electroretinogram pointed to the diagnosis of retinal dystrophy type rod-cone in 8 patients. In patients in whom severe corneal clouding precluded fundus oculi inspection and at an early stage before typical fundus appearance diagnosis was possible only using the electroretinogram. Visual evoked potentialswere useful to confirm the loss of visual function in patients difficult to test clinically. The authors suggest the use of electroretinogram and visual evoked potentialsprimarily as research tools to describe the natural history and ophthalmologi...