Hereditary vitreoretinal dystrophy associated with peripheral neuropathy

Autosomal dominant inherited vitreoretinal dystrophy has been reported to occur as isolated ocular disease (Wagner's disease) or in combination with systemic manifestations (e.g., Stickler's syndrome). We examined five members of one family (three generations) and found vitreoretinal dystrophy and non-ocular signs in a mother and her two children. In the mother we also observed tractional detachment of the macula. In addition to routine ophthalmological examinations, we performed electrophysiological tests (ERG, EOG), adaptometry and magnetic resonance imaging of the head. Neurological examination revealed peripheral neuropathy in the mother and her children. We had no evidence that the neuropathy had a toxic or metabolic origin, and other genetically determined neuropathies were unlikely based on the clinical picture, MRI, and laboratory tests. Therefore, the neuropathy might be either a hitherto unrecognized feature of a variant of Stickler's syndrome or part of a yet unclassified hereditary vitreoretinal dystrophy with systemic involvement.