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PubMed · 6839203

Isolated bilateral complete ptosis.

V H Conway·B Rozdilsky·R J Schneider·M Sundaram
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Abstract

A 45-year-old man had bilateral complete ptosis attributed to damage to the central caudal nucleus in the nuclear complex of the third cranial nerve, the other subnuclei being spared. Many discrete inflammatory foci were found in the midbrain and brainstem, a picture resembling that seen in subacute encephalitis. The findings are related to Warwick's concept of the anatomy of the third nerve.

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BlepharoptosisBrain StemCaudate NucleusEncephalitisEye MovementsHumansMaleMiddle AgedOculomotor NerveCase ReportsJournal Article

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V H Conway, B Rozdilsky, R J Schneider, M Sundaram. 1983. Isolated bilateral complete ptosis.. https://pubmed.ncbi.nlm.nih.gov/6839203/

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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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