HEREDITARY VITREORETINAL DYSTROPHY ASSOCIATED WITH PERIPHERAL NEUROPATHY

Autosomal dominant inherited vitreoretinal dystrophy has been reported to occur as an isolated ocular disease (Wagner's disease) or in combi nation with systemic manifestations (e.g., Stickler's syndrome). We ex amined five members of one family (three generations) and found vitreo retinal dystrophy and non-ocular signs in a mother and her two childre n. In the mother we also observed tractional detachment of the macula. In addition to routine ophthalmological examinations, we performed el ectrophysiological tests (ERG, EOG), adaptometry and magnetic resonanc e imaging of the head. Neurological examination revealed peripheral ne uropathy in the mother and her children. We had no evidence that the n europathy had a toxic or metabolic origin, and other genetically deter mined neuropathies were unlikely based on the clinical picture, MRI, a nd laboratory tests. Therefore, the neuropathy might be either a hithe rto unrecognized feature of a variant of Stickler's syndrome or part o f a yet unclassified hereditary vitreoretinal dystrophy with systemic involvement.