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Masked blepharoptosis.

Abstract

The eyelid of a patient with apparent unilateral blepharoptosis and a preference for fixation with the contralateral eye, was corrected surgically. However, postoperatively when the preferred (unoperated) eye was used for fixation, the ptosis appeared to have been overcorrected. When the non-preferred (operated) eye was forced to take up fixation, the overcorrected lid position resolved, but ptosis of the unoperated eyelid was unmasked. Surgical correction of this previously masked ptosis ultimately produced a satisfactory result. Our experience emphasizes the importance of ocular fixation preference when evaluating patients with blepharoptosis.

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BibTeXRIS

L B Lockhart, A W Biglan. Masked blepharoptosis.. https://doi.org/10.3928/0191-3913-19860101-10

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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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