Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from heterozygous missense mutations of <i>KIF21A<...

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Bibliographic Details
Main Authors: Mervyn G. Thomas, Gail D. E. Maconachie, Helen J. Kuht, Wai-Man Chan, Viral Sheth, Michael Hisaund, Rebecca J. McLean, Brenda Barry, Bashir Al-Diri, Frank A. Proudlock, Zhanhan Tu, Elizabeth C. Engle, Irene Gottlob
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:International Journal of Molecular Sciences
Subjects:
congenital fibrosis of extraocular muscles
optic nerve hypoplasia
optical coherence tomography
retinal ganglion cells
development
congenital cranial dysinnervation disorders
Online Access:https://www.mdpi.com/1422-0067/22/5/2575

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https://www.mdpi.com/1422-0067/22/5/2575

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