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PubMed · 7436841

Involutional blepharoptosis. A histopathological study.

R K Dortzbach·F C Sutula
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Abstract

Nineteen eyelids were examined histologically in cases of involutional blepharoptosis. Aponeurogenic defects were demonstrated in the majority of cases. A revised classification of acquired blepharoptosis, and the procedure of choice for the correction of this entity are discussed.

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BlepharoptosisEyelidsHumansJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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R K Dortzbach, F C Sutula. 1980. Involutional blepharoptosis. A histopathological study.. https://doi.org/10.1001/archopht.1980.01020040897022

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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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