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  • Title: Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome.
    Author: Dooley JM, LaRoche GR, Tremblay F, Riding M.
    Journal: Pediatr Neurol; 1992; 8(3):232-4. PubMed ID: 1622524.
    Abstract:
    Two sisters with autosomal recessive cerebellar hypoplasia and severe nonprogressive retinal pigmentary disease are presented. This syndrome has been previously described in only 1 patient. The retinal changes may be difficult to discern and we suggest that all patients with congenital ataxia have a detailed ophthalmologic assessment, including electroretinography.
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