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J. Y. Li, R. Foroozan, M. T. Yen; Oculopharyngeal Muscular Dystrophy Diagnosed by Genetic Testing. Invest. Ophthalmol. Vis. Sci. 2008;49(13):4371.
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Oculopharyngeal muscular dystrophy (OPMD) is a rare hereditary disorder characterized by slowly progressive bilateral ptosis and dysphagia. Although the prevalence of OPMD is low, the disease has been reported in over thirty countries. In North America, the largest clusters of OPMD were reported among French-Canadians and Hispanics in New Mexico. In the past, patients who were suspected to have OPMD based on clinical findings could undergo muscle biopsy for confirmation of diagnosis. However, genetic testing is now a readily available, minimally invasive test for OPMD. We demonstrate the utility of genetic testing in the diagnosis of oculopharyngeal muscular dystrophy.
A retrospective chart review of patients seen at our institution where the diagnosis of oculopharyngeal muscular dystrophy was obtained by genetic testing.
We report two patients with oculopharyngeal muscular dystrophy diagnosed by genetic testing. The patients were from the United States but neither was of French-Canadian ancestry nor related to the previously reported New Mexican cluster. Patient 1 was a fifty-two year-old Hispanic female from Texas who had a five to seven year history of progressive ptosis and dysphagia. Patient 2 was a sixty-nine year-old female from Louisiana with a twenty year history of progressive ptosis and severe dysphagia. In both cases, patients underwent testing for myasthenia gravis before genetic testing for oculopharyngeal muscular dystrophy confirmed the diagnosis. Both patients were carriers of a mutation of the poly(A) binding protein 2 (PABP2) gene associated with the autosomal dominant form of oculopharyngeal muscular dystrophy.
The diagnosis and management of OPMD can be clinically challenging. Our report demonstrates the utility of using genetic testing of the PABP2 gene in obtaining the correct diagnosis for patients suspected of having OPMD. Once an accurate diagnosis is made, appropriate surgical management of the associated eyelid malpositions can be performed.
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