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Article

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2.

Ophthalmic genetics - 1 Jun 2016

Khan Arif O, Almutlaq Mohammed, Oystreck Darren T, Engle Elizabeth C, Abu-Amero Khaled, Bosley Thomas

Abstract excerpt

INTRODUCTION: Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a distinct non-syndromic form of congenital incomitant strabismus secondary to orbital dysinnervation from recessive mutations in the gene PHOX2A. The phenotype includes bilateral ptosis, very large angle exotropia, ophthalmoplegia, and poorly-reactive pupils. Other than amblyopia, afferent visual dysfunction has not been considered...

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Identifiers

PMID: 24940936
DOI: 10.3109/13816810.2014.926942
PMCID: PMC4270951

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Source receipt: pubmed, retrieved 7 Sept 2026.

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