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

Xia, Weiyi; Wei, Yan; Wu, Lianqun; Zhao, Chunxia

doi:10.3390/children9111605

Cited by 5 publications

(1 citation statement)

References 81 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…CFEOM is phenotypically and genotypically heterogeneous. At least seven causal genes and one locus are responsible for five subtypes, designated CFEOM types 1 through 5 [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Congenital Fibrosis of Extraocular Muscles: A Retrospective Study of 76 Patients

Yuksel Sukun,

Hamis Inal,

Ocak

et al. 2024

Cureus

View full text Add to dashboard Cite

BackgroundCongenital fibrosis of the extraocular muscles (CFEOM) is a non-progressive sporadic or familial disease characterized by abnormal innervation of the extraocular muscles. This study aims to evaluate the types of diseases, management steps, and surgical outcomes. MethodologyA total of 76 patients diagnosed with CFEOM between 2000 and 2022 were evaluated retrospectively. Patients were divided into CFEOM 1, 2, or 3 based on clinical findings. Preoperative and postoperative ocular deviations, as well as abnormal head positions (AHPs), of the patients were evaluated. Excellent outcomes for the head position were defined as less than 5°, good as less than 10°, and poor as greater than 10°. Excellent alignment for strabismus was considered to be less than 10 prism diopters (PD), good as less than 20 PD, and poor as greater than 20 PD. ResultsThe average age at the first surgery in our clinic was 11.6 (1-51) years. The mean follow-up was 28.6 ± 7.4 months (range = 4-56 months). Type 1 disease was detected in 48 (63.2%) patients, type 2 disease in eight (10.5%), and type 3 disease in 20 (26.3%) patients. Of the 49 patients with AHP, 20 achieved excellent outcomes, 17 had good outcomes, and the remaining had poor outcomes. Ocular alignment in the primary position following the latest surgery was excellent in 30 patients, good in 26 patients, and poor in 20 patients. ConclusionsNo single best surgical method can be universally applied to every patient diagnosed with CFEOM. Patients must be evaluated individually and carefully, and the appropriate surgical procedure must be chosen. In this way, satisfactory gaze alignment and improvement of the AHP can be achieved.

show abstract

“…CFEOM is phenotypically and genotypically heterogeneous. At least seven causal genes and one locus are responsible for five subtypes, designated CFEOM types 1 through 5 [ 20 ].…”

Section: Discussionmentioning

confidence: 99%