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Spinocerebellar degeneration-corneal dystrophy syndrome
Disease definition
Corneal cerebellar syndrome is characterised by the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of whom had only minor spinocerebellar signs without ocular involvement.
ORPHA:3177
Summary
Differential diagnosis
This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome (see this term) by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.
Management and treatment
Penetrating keratoplasty resulted in improved vision.
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