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Quantitative E.M.G. of E.O.M in patients with congenital fibrosis of the extraocular muscles (CFEOM1)
Published in Jan-Tjeerd de Faber, 28th European Strabismological Association Meeting, 2020
C. Schiavi, C. Bellusci, E.C. Campos
Congenital fibrosis of the extraocular muscles (CFEOM) is a relatively rare eye movement disorder typically inherited in an autosomal dominant fashion with minimum prevalence estimated as 1 in 230,000. Affected individuals show congenital, bilateral ptosis and restrictive external ophthalmoplegia, with their eyes partially or completely fixed in an infraducted (downward) and strabismic position. Often aberrant residual movements occur on attempts to move the eyes into the restricted field of vision (1). The intra-familial heterogeneity is often possible (2). All family members have markedly reduced vertical movements but the involvement of horizontal muscles varies greatly between family members, as does the involvement of the levator muscle.
Nasal insertion of the superior oblique tendon presenting as Brown syndrome
Published in Strabismus, 2022
Ahmed Awadein, Ahmed Adel Youssef, Jylan Gouda
Nasal insertion of the superior oblique was reported before in cases with congenital fibrosis of extraocular muscles. Brodsky, while discussing the surgical management of the congenital fibrosis syndrome, reported a case where surgical exploration revealed anomalous superior oblique tendons.2 The right superior oblique tendon consisted of tight, bifid structure which was anteriorly displaced, and which resembled muscle rather than tendon. The left superior oblique tendon also resembled muscle and was attached posteriorly under the temporal border of the superior rectus muscle. In both eyes, the superior oblique tendons were recessed and transposed anteriorly to the temporal border of the superior rectus muscle, which markedly reduced the patient’s divergence in downgaze. Sener and colleagues described the surgical management of 52 cases of congenital fibrosis of the extraocular muscles; they mentioned 3 cases of heterotopic superior oblique muscles inserting 0–4 mm nasal and posterior to the superior rectus insertion.3 Hunter et al. also reported anomalous superior oblique tendon insertion in congenital fibrosis of extraocular muscles.4 They described seven cases with an anomalously inserted superior oblique tendon, identified immediately adjacent and nasal to the superior rectus muscle rather than in its usual location in the superotemporal fornix.
Comparison of Clinical and Radiological Findings between Congenital Orbital Fibrosis and Congenital Fibrosis of the Extraocular Muscles
Published in Current Eye Research, 2018
Namju Kim, Hee Kyung Yang, Jae Hyoung Kim, Jeong-Min Hwang
Congenital fibrosis of the extraocular muscles (CFEOM) is caused by abnormal development of cranial nerves innervating the extraocular muscles.1–4 Most of the patients with CFEOM show oculomotor nerve hypoplasia.5,6 Congenital orbital fibrosis is a congenital disorder also characterized by restrictive ophthalmoplegia and ptosis.7–11 It was originally named as “unilateral fibrosis, blepharoptosis, and enophthalmos syndrome” by Leone et al.7 in 1972, and later was described as “congenital orbital fibrosis” by Mavrikakis et al.11 in 2009. Before Mavrikakis et al.11 suggested that congenital orbital fibrosis is distinct from CFEOM, some had classified this entity as the rarest form of CFEOM.7–10 Unilateral CFEOM may be clinically similar or indistinguishable from congenital orbital fibrosis, and even after the new terminology was suggested, a probable case of congenital orbital fibrosis was still reported as CFEOM.12 The aim of this report was to compare the clinical and radiologic findings of CFEOM and congenital orbital fibrosis based on ophthalmologic manifestations and high-resolution magnetic resonance imaging (MRI).
Congenital Fibrosis of Extraocular Muscles: A Systematic Review and Meta-Analysis
Published in Journal of Binocular Vision and Ocular Motility, 2023
Joshua M. Van Swol, Walter K. Myers, Shaun A. Nguyen, M. Edward Wilson
Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic syndrome characterized by nonprogressive, restrictive global ophthalmoplegia with incomitant strabismus and eyelid ptosis. CFEOM is now recognized as a subset of congenital cranial dysinnervation disorders (CCDDs) with fibrosis secondary to improper extraocular muscle innervation.1,2 Three major forms have been described based on both phenotypic and genetic features.1,3