Congenital fibrosis of the extraocular muscles: review of recent literature. Issue 5 (September 2019)

• Record Type: Journal Article
• Authors: Price, Jade M.; Boparai, Ranjodh S.; Wasserman, Barry N.
• Is Part Of: Current opinion in ophthalmology. Volume 30:Issue 5(2019)
• Publication Date: 2019-09
• Subjects: congenital cranial dysinnervation disorders -- congenital fibrosis of the extraocular muscles -- dysinnervation -- ptosis -- strabismus; Ophthalmology -- Periodicals; Eye Diseases -- Indexes; Eye Diseases -- Periodicals; Review Literature -- Indexes; Review Literature -- Periodicals; Vision Disorders -- Indexes; Vision Disorders -- Periodicals; 617.7
• DOI: 10.1097/ICU.0000000000000592
• Languages: English
• ISSNs: 1040-8738

Abstract

Abstract : Purpose of review: Congenital fibrosis of the extraocular muscles (CFEOM) is caused by abnormal development of the innervation of extraocular muscles. We update the recent literature regarding the clinical, anatomic, genetic, and molecular characteristics of CFEOM. Surgical considerations are addressed. Recent findings: CFEOM is broken down into three main subtypes, CFEOM1, CFEOM2, and CFEOM3. Several recent reports of individuals, as well as family pedigrees, highlight the phenotypic heterogeneity of CFEOM. Intracranial and intraorbital radiologic findings have enhanced our understanding of the disease pathophysiology. Molecular genetics research has increased our understanding of the development of extraocular muscles and their innervation as well as pathophysiology of CFEOM. Summary: Our understanding of the pathophysiology of CFEOM has increased with the recent contributions from neuroimaging, molecular genetics, and pedigree analysis. Surgical management of patients with CFEOM continues to be challenging.