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) app ear to represent the same disease which is characterized by dominantly inherited cerebellar ataxia and pigmentary retinal degeneration. In J une, 1988, a 15-year-old girl presented with objective visual acuity l oss but no other findings. When seen again in January, 1991, macular c hanges were noted. At this time, her mother, diagnosed with multiple s clerosis, was examined and found to have atrophic macular lesions and poor vision. A brain MRI was performed which showed findings diagnosti c of OPCA type III, including cerebellar and pontine atrophy and speci fic loss of the inferior olives. Fundus features, electroretinographic results and other clinical findings in OPCA type III are discussed an d diagnostic MRI lesions are demonstrated.