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Oculopharyngeal muscular dystrophy: What's new?
François Codère1, Bernard Brais, Guy Rouleau
1Departments of Ophthalmology, McGill University, Royal Victoria Hospital & University of Montreal, Montreal, Quebec, Canada
Abstract:
The authors place autosomal dominant oculopharyngeal muscular dystrophy in a historical perspective, look at the genealogy involved, and review the genetic studies. In addition to summarizing what happens at the histopathological level, they examine the clinical characteristics of this late-onset dystrophy. Based on this knowledge, they try to present their rationale for the surgical treatment of the eyelid ptosis, taking into account that this disease is progressive and that treatment should be planned for the lifetime of the patient. Three representative cases are illustrated.