Congenital fibrosis of extraocular muscles

Authors

  • Stefania Manzano Hospital Humberto Notti. Mendoza, Argentina
  • Sofía Soledad Ramírez Centrovisión Clínica Oftalmológica. Mendoza, Argentina
  • Ofelia Brugnoli de Pagano Centrovisión Clínica Oftalmológica. Mendoza, Argentina

DOI:

https://doi.org/10.70313/2718.7446.v18.n1.401

Keywords:

CFEOM, congenital fibrosis of the extraocular muscles, congenital ophthalmoplegia, generalized fibrosis, imperfect ophthalmoplegia and abiotrophic external

Abstract

Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic disorder that belongs to the congenital disorders of cranial disinervation and is characterized by a non-progressive restrictive ophthalmoplegia. The objective was to present the case of a patient with a CFEOM type 1 diagnosis based on clinical history, physical examination and substantiated by magnetic resonance imaging findings, presenting possible treatments and limitations. 

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References

Xia W, Wei Y, Wu L, Zhao C. congenital fibrosis of the extraocular muscles: an overview from genetics to management. Children (Basel). 2022; 9(11): 1605. doi:10.3390/children9111605.

Ascencio J, Sanín E, Londoño L. Fibrosis congénita de los músculos extraoculares. Rev Colomb Radiol. 2013; 24(1): 3665-3667.

Vivian AJ. Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders. Eye (Lond). 2020; 34(2): 251-255. doi:10.1038/s41433-019-0700-z

Deustua S, Hernández Perugorría A, Méndez Sánchez T, Pons Castro L, Naranjo Fernández R. Fibrosis congénita de los músculos extraoculares. Rev Cubana Oftalmol. 2022; 35 (1).

Whitman MC, Engle EC. Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Hum Mol Genet. 2017; 26(R1): 37-44. doi:10.1093/hmg/ddx168.

Oystreck DT, Engle EC, Bosley TM. Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol. 2011; 31(1): 69-77. doi:10.1097/WNO.0b013e31820d0756.

Price JM, Boparai RS, Wasserman BN. Congenital fibrosis of the extraocular muscles: review of recent literature. Curr Opin Ophthalmol. 2019; 30(5): 314-318. doi:10.1097/ICU.0000000000000592. PMID: 31313749.

Merino P, Gómez de Liaño P, Fukumitsu H, Franco G, Ruiz Y. Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. Strabismus. 2013; 21(3): 183-189. doi:10.3109/09273972.2013.811605.

Published

2025-03-28

Issue

Section

Case Report

How to Cite

1.
Manzano S, Ramírez SS, Brugnoli de Pagano O. Congenital fibrosis of extraocular muscles. Oftalmol. clín. exp. 2025;18(1):e111-e116. doi:10.70313/2718.7446.v18.n1.401

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