Autoomal receive cerebellar ataxia with bull’-eye macular dytrophy

PURPOE: In 1980, we publihed in the American Journal of Ophthalmology two ibling with hereditary ataxia and atrophic maculopathy. The report i cited in the literature a autoomal dominant cerebellar ataxia with retinal degeneration. The purpoe of the preent tudy i to document the progreion of the neurodegenerative diorder and to review the diagnoi. DEIGN: Obervational cae report. METHOD: Twenty year after the original publication, the 52-year-old male patient had new ocular and neurologic examination, fluorecein angiography, molecular genetic analyi, and biochemical teting. REULT: Fluorecein angiography howed marked progreion of the macular dytrophy to a bull’-eye configuration. Genetic analyi of the patient did not how CAG trinucleotide repeat expanion in the variou pinocerebellar ataxia gene. Thi exclude the diagnoi of autoomal dominant cerebellar ataxia with macular degeneration (ADCA type II) with mutation of the pinocerebellar ataxia 7 gene. Major caue of autoomal receive cerebellar ataxia with retinal degeneration, including Friedreich ataxia and congenital diorder of glycoylation, were alo excluded. CONCLUION: The two patient, previouly publihed in the American Journal of Ophthalmology by Eerola and coworker, did not uffer from preently recognized diorder with cerebellar ataxia and retinal degeneration. The Eerola yndrome probably repreent a eparate neurodegenerative entity characterized by autoomal receive cerebellar ataxia and progreive macular dytrophy with a bull’-eye pattern