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PubMed · 8681470

Acquired blepharoptosis.

Abstract

A review is given of the aetiology and possible treatment of acquired (non-congenital), blepharoptosis, which is a common but not specific sign of neurological disease. The diagnostic categories of upper eyelid drooping are scheduled as (a) pseudo-ptosis due to a local process or overactivity of eye closure, including blepharospasm, and (b) true ptosis due to a paresis of the eyelid levators (m. tarsalis superior or m. levator palpebrae) or to a disinsertion of the m. levator palpebrae (aponeurotic ptosis). A paresis of the m. tarsalis is due to a lesion in the central, intermediate or peripheral neuron of the sympathetic chain and constitutes one of the components of Horner's syndrome. A paresis of the m. levator palpebrae may be due to a failure in central innervation, in oculomotor (n.III) function, in neuromuscular transmission or to a lesion in the muscle itself.

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BibTeXRIS

H J Oosterhuis. 1996. Acquired blepharoptosis.. https://doi.org/10.1016/0303-8467(95)00087-9

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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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