Olivopontocerebellar atrophy with retinal degeneration. Fundus characteristics and diagnostic MRI findings.

Olivopontocerebellar atrophy with retinal degeneration (OPCA type III) and autosomal dominant cerebellar atrophy of late onset (type II) appear to represent the same disease which is characterized by dominantly inherited cerebellar ataxia and pigmentary retinal degeneration. In June, 1988, a 15-year-old girl presented with objective visual acuity loss but no other findings. When seen again in January, 1991, macular changes were noted. At this time, her mother, diagnosed with multiple sclerosis, was examined and found to have atrophic macular lesions and poor vision. A brain MRI was performed which showed findings diagnostic of OPCA type III, including cerebellar and pontine atrophy and specific loss of the inferior olives. Fundus features, electroretinographic results and other clinical findings in OPCA type III are discussed and diagnostic MRI lesions are demonstrated.