Clinical Features & Retinal Function In Patients With Adult Refsum Syndrome

Abstract

Purpose: To characterise the clinical findings, and retinal function in patients with Adult Refsum Syndrome (ARS) using clinical examination and electroretinography, and to evaluate possible effects of treatment. ARS is an autosomal recessive peroxisomal multisystem disorder with accumulation of phytanic acid (PhyAc) (Jansen et al, 1997). Mutations have been identified in the gene encoding human phytanoyl-CoA a-hydroxylase (Jansen et al, 1997, Mihalik et al, 1997) and recently in PEX7 (van den Brink et al, 2003). The classical clinical features of the condition are retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia and high protein levels in CSF in the absence of hypercellularity (Wanders et al, 2001). The disease is treatable by a PhyAc restriction diet, either alone, or in combination with plasmapheresis (Wanders et al, 2001). Only a limited amount of patients have been studied with visual electrophysiology to date (Berson, 1987 and Claridge et al, 1992).