Abstract

ARNALICH-MONTIEL, F; REBOLLEDA, G  and  MUNOZ-NEGRETE, FJ. SCA-7: Cone-rod dystrophy in the context of an hereditary ataxia. Arch Soc Esp Oftalmol [online]. 2005, vol.80, n.11, pp.679-682. ISSN 0365-6691.

Clinical case: A 21-year-old male presented with bilateral loss of visual acuity within the last year, and cerebellar ataxia since childhood. Two members of his family had a similar disorder. Examination showed bilateral central scotomas, as well as an electroretinogram pattern and optic coherence tomography images consistent with cone-rod dystrophy. Molecular analysis by PCR amplification and genotyping of the SCA7 gene established the diagnosis of SCA-7. Discussion: SCA-7 is a polyglutamine expansion disorder and the only spinocerebellar ataxia that shows a cone-rod dystrophy phenotype, which probably results from interference with the action of specific cone-rod genes.

Keywords : SCA-7; spinocerebellar ataxia; cone-rod dystrophy; optical coherence tomography; ataxin-7.