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Review
. 2022 Oct 22;9(11):1605.
doi: 10.3390/children9111605.

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management

Weiyi Xia  1   2   3 , Yan Wei  1   2   3 , Lianqun Wu  1   2   3 , Chen Zhao  1   2   3
Affiliations
Review

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management

Weiyi Xia et al. Children (Basel). .

Abstract

Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic disorder belonging to the congenital cranial dysinnervation disorders and is characterized by nonprogressive restrictive ophthalmoplegia. It is phenotypically and genotypically heterogeneous. At least seven causative genes and one locus are responsible for the five subtypes, named CFEOM-1 to CFEOM-5. This review summarizes the currently available molecular genetic findings and genotype-phenotype correlations, as well as the advances in the management of CFEOM. We propose that the classification of the disorder could be optimized to provide better guidance for clinical interventions. Finally, we discuss the future of genetic-diagnosis-directed studies to better understand such axon guidance disorders.

Keywords: classification; congenital cranial dysinnervation disorders; congenital fibrosis of the extraocular muscles; genotype–phenotype correlation; management.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Images of a CFEOM-1 patient with bilateral ptosis, large fixed hypotropia, and a chin-up head posture.
Figure 2
Figure 2
Images of a CFEOM-2 patient with bilateral ptosis and large fixed exotropia.
Figure 3
Figure 3
Images of a CFEOM-3 patient with unilateral ptosis, hypotropia, and limited abduction as well as supraduction of the left eye.
Figure 4
Figure 4
Schematic representation of the KIF21A protein structure and 15 previously recognized disease-causing amino acid substitutions associated with CFEOM.
Figure 5
Figure 5
Schematic representation of five recognized PHOX2A mutations leading to CFEOM.
Figure 6
Figure 6
Schematic representation of 13 previously recognized TUBB3 amino acid substitutions associated with CFEOM.
See this image and copyright information in PMC

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