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PubMed · 1508480

Simplified aponeurotic ptosis surgery.

M T Doxanas
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Abstract

I present a simplified aponeurotic ptosis repair that minimizes surgical dissection and enhances the predictability of postoperative eyelid positions. Indications for the procedure are unilateral ptosis, bilateral ptosis where preaponeurotic fat excision is not indicated, mild congenital ptosis, and reoperations from standard levator surgery. The procedure is best suited for surgeons who have a thorough knowledge of the levator aponeurosis anatomy.

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BlepharoptosisEyelidsFollow-Up StudiesHumansMethodsMusclesPostoperative ComplicationsReoperationTendonsJournal Article

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M T Doxanas. 1992. Simplified aponeurotic ptosis surgery.. https://pubmed.ncbi.nlm.nih.gov/1508480/

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Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disorder characterized by progressive dysphagia and bilateral ptosis. Mutations in the polyadenylate binding protein nuclear 1 (PABPN1) gene have been found to cause OPMD. The typical mutation is a stable trinucleotide repeat expansion in the first exon of the PABPN1 gene, in which (GCG)(6) is the normal repeat length. We investigated a Korean patient with OPMD and identified a novel mutation: a heterozygous insertion of a 9-bp sequence [(GCG)(GCA)(GCA); c.27_28insGCGGCAGCA] instead of the (GCG) repeat expansion, resulting in an in-frame insertion of three alanines (p.A10insAAA). To the best of our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.

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