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PubMed · 580354

Surgery for lid retraction.

Abstract

Various methods of surgical correction of lid retraction are discussed. Retraction secondary to overcorrected ptosis surgery is more amenable to correction by various stretching techniques, incising of the levator or recession of the lid elevators. Endocrine lid retraction poses a more difficult problem. Because of the many facets to the problem, a multidisciplined team approach is advised with surgery planned in a stepwise fashion to suit the many interrelated ocular problems of each individual patient.

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BibTeXRIS

M A Meltzer. 1978. Surgery for lid retraction.. https://pubmed.ncbi.nlm.nih.gov/580354/

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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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