title: Olivopontocerebellar atrophy with visual disturbances. An ophthalmologic investigation into four generations.
abstract: Fifty-one members of four generations of a family with autosomal dominant olivopontocerebellar atrophy with decreased visual acuity were examined by an ophthalmologist and a neurologist. Twenty-two persons were affected ophthalmologically and 27 were affected neurologically. We describe the ophthalmologic findings as well as the case history of our youngest patient (age 11 months) from whom we obtained brain tissue and an ophthalmopathologic report at autopsy.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001284:Atrophy; D001927:Brain Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002526:Cerebellar Diseases / Q000150:complications; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000209:etiology* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009847:Olivary Nucleus / Q000473:pathology; D010375:Pedigree; D011149:Pons / Q000473:pathology