Progessive retino-choroidal atrophy with spinocerebellar ataxia

Abstract

The clinical course and ophthalmological findings in the five affected subjects of a kindred with an autosomal dominant, progressive retino-choroidal atrophy and spinocerebellar ataxia varied considerably during the 13–18 year follow-up. The symptoms started most often with visual disturbances suggesting affection of the cones and papillomacular nerve fiber layer. Macular pigmentary dispersion preceded macular degeneration, generalized patchy chorioretinal atrophy and complete optic atrophy, and extinction of ERG and VEP. The late fundus findings of one patient resembled gyrate atrophy of the choroid and retina, but plasma ornithine concentrations were within normal limits in all patients.

Key Words:

• spinocerebellar ataxia
• progressive cone-rod dystrophy
• atypical gyrate atrophy