Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome.
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.
Dooley
J M
JM
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
LaRoche
G R
GR
Tremblay
F
F
Riding
M
M
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