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

• Published in: Hong Kong medical journal = Xianggang yi xue za zhi Vol. 19; no. 2; pp. 182 - 185
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: China Hong Kong Academy of Medicine 01-04-2013
• Subjects: Blepharoptosis - diagnosis; Blepharoptosis - genetics; Case reports; Child; Eye Diseases, Hereditary - complications; Eye Diseases, Hereditary - genetics; Fibrosis; Genetic Linkage; Hong Kong; Humans; Kinesin - genetics; Male; Mutation; Ocular Motility Disorders - complications; Ocular Motility Disorders - diagnosis; Ocular Motility Disorders - genetics; Oculomotor Muscles - pathology; Ophthalmoplegia - diagnosis; Ophthalmoplegia - genetics; Rare Diseases; Ophthalmoplegia; Chinese; DNA mutational analysis; Pedigree; Oculomotor muscles
• ISSN: 1024-2708; 2226-8707

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 findings, mutational analysis of KIF21A gene should be performed, not only to confirming the diagnosis, but also to offer a prognosis, for genetic counselling, and the possibility of prenatal diagnosis. Here we report the first KIF21A mutation associated with CFEOM1A in Hong Kong.