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PubMed · 677663

Minimum ptosis corrected by lid fold procedure.

Abstract

The lid fold procedure has become a popular ophthalmic plastic surgical procedure among Oriental girls following World War II here in Hawaii and in the Orient. In addition to creating a lid fold, the procedure can be used to correct a mild degree of ptosis (1 to 3 mm). When done under local anesthesia the width of the fold, the amount of elevation, and the matching symmetry of the eyelids can be readily controlled.

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BibTeXRIS

W W Wong. 1978. Minimum ptosis corrected by lid fold procedure.. https://pubmed.ncbi.nlm.nih.gov/677663/

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Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.

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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