Autosomal recessive cerebellar ataxia with bull’s-eye macular dystrophy

Abstract

PURPOSE: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary ataxia and atrophic maculopathy. The report is cited in the literature as autosomal dominant cerebellar ataxia with retinal degeneration. The purpose of the present study is to document the progression of the neurodegenerative disorder and to review the diagnosis. DESIGN: Observational case report. METHODS: Twenty years after the original publication, the 52-year-old male patient had new ocular and neurologic examinations, fluorescein angiography, molecular genetic analysis, and biochemical testing. RESULTS: Fluorescein angiography showed marked progression of the macular dystrophy to a bull’s-eye configuration. Genetic analysis of the patient did not show CAG trinucleotide repeat expansion in the various spinocerebellar ataxia genes. This excludes the diagnosis of autosomal dominant cerebellar ataxia with macular degeneration (ADCA type II) with mutation of the spinocerebellar ataxia 7 gene. Major causes of autosomal recessive cerebellar ataxia with retinal degeneration, including Friedreich ataxia and congenital disorders of glycosylation, were also excluded. CONCLUSION: The two patients, previously published in the American Journal of Ophthalmology by Eerola and coworkers, did not suffer from presently recognized disorders with cerebellar ataxia and retinal degeneration. The Eerola syndrome probably represents a separate neurodegenerative entity characterized by autosomal recessive cerebellar ataxia and progressive macular dystrophy with a bull’s-eye pattern.