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Article

Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.

Hong Kong medical journal = Xianggang yi xue za zhi - 1 Apr 2013

Luk H M, Lo Ivan F M, Lai Carmen W S, Ma Louis C K, Tong Tony M F, Chan Daniel H C, Lam Stephen T S

Abstract excerpt

With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised by a congenital non-progressive restrictive ophthalmoplegia and ptosis. It is an autosomal dominant disease, caused by mutations of the KIF21A gene. With positive family history and typical ophthalmological...

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PMID: 23535681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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