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PubMed · 2086469

Modified split level lid resection in ptosis.

Abstract

10 patients of congenital simple ptosis having 3 to 5 mm of ptosis with variable levator action were operated. All the patients showed a good response of lid lift after instillation of phenyl ephrine drops showing the activity of Muller's muscle. With this technique the lagophthalmos was minimal and good lid folds were formed in all cases. The skin muscle lamina was not excised and was utilized for formation of lid folds which were equal in depth and dynamic in nature. However, the lid lag which is an unavoidable complication of any ptosis surgery was present in the present technique also.

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S M Bethria, N D Patil. Modified split level lid resection in ptosis.. https://pubmed.ncbi.nlm.nih.gov/2086469/

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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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