title: Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome.
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.
authors.affiliation: Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: J M
authors.initials: JM
authors.lastname: Dooley
authors.forename: G R
authors.initials: GR
authors.lastname: LaRoche
authors.forename: F
authors.initials: F
authors.lastname: Tremblay
authors.forename: M
authors.initials: M
authors.lastname: Riding
mesh_terms: D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004596:Electroretinography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome