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PubMed · 1896801

[Post-traumatic ptosis].

Abstract

Traumatic ptosis is most often secondary to a fasciomuscular lesion of the levator system. Less frequently, it results from the paralysis of the levator muscle due to an injury to the third pair of cranial nerves. This ptosis is observed in comminuted orbital fractures or fractures of the base of the skull involving the orbital apex, and it is then associated with oculomotor paralysis. In favorable cases seen early, repairing surgery of the levator system produces excellent results. When associated with ophthalmoplegia or corneal anesthesia, neurogenic ptosis requires a watch and wait policy.

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BibTeXRIS

P Y Waller, C Chossegros, E Semeria, R Gola. 1991. [Post-traumatic ptosis].. https://pubmed.ncbi.nlm.nih.gov/1896801/

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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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