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J. Jaramillo, R. Black, D. Sandoval, J. Chapin, L. Morrison, R.C. Allen; Ophthalmic and molecular characterization of Hispanic New Mexicans with oculopharyngeal muscular dystrophy (OPMD) . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4579.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant condition characterized primarily by progressive ptosis and dysphagia. The disease is caused by expansions of a triplet GCG repeat in the PABPN1 gene. The purpose of this report is to characterize the ophthalmic and molecular findings in a large population of Hispanic New Mexicans with OPMD and to evaluate ptosis surgery outcomes. Methods: Hispanic New Mexicans diagnosed with OPMD underwent a full ophthalmic examination with special attention to the following lid measurements: margin reflex distance (MRD), palpebral fissure height (PF), and levator function (LF). Patients were also evaluated molecularly at the PABPN1 gene. Patients who underwent ptosis surgery were evaluated post–operatively. Results: 78 patients with OPMD underwent full ophthalmic examination. All patients who were evaluated molecularly had a (GCG)9 expansion in the PABPN1 gene. The average age at presentation was 64 years. Average MRD, PF, and LF in millimeters at presentation were –0.25, 4.6, and 8.5, respectively. For the first surgery 14 patients had levator muscle based surgery, 13 patients had blepharoplasty surgery, and 38 patients had frontalis sling surgery. Of the patients who had levator surgery or frontalis sling surgery, the average change in lid height was 1.3mm and 2.3mm, respectively. 64% of patients who underwent levator surgery, 100% of patients who underwent blepharoplasty surgery, and 18% of patients who underwent frontalis sling surgery had recurrent ptosis. The most common additional ophthalmic findings were ocular motility deficits, especially elevation deficits. The most common systemic symptom was dysphagia. Conclusion: There is a large population of Hispanic New Mexicans with OPMD. These patients show a (GCG)9 expansion in the PABPN1 gene. Patients most commonly present in the seventh decade with findings consistent with myogenic ptosis. Frontalis sling surgery is the most effective method to treat ptosis in these patients.
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