Anomalous superior oblique muscles and tendons in congenital fibrosis of the extraocular muscles

Shoshany, Talia N.; Robson, Caroline D.; Hunter, David G.

doi:10.1016/j.jaapos.2019.09.014

Cited by 12 publications

(5 citation statements)

References 15 publications

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“…For instance, Chen et al reviewed 40 Chinese cases of CFEOM and found that 29 cases (72.5%) were CFEOM-1, 10 cases (25%) were CFEOM-3, and only 1 case (2.5%) was CFEOM-2 [ 18 ]. This is consistent with the spectrum in Western countries, whereas there is a significantly higher incidence of CFEOM-2 in the Middle East due to consanguineous marriages [ 19 , 20 , 21 , 22 , 23 ].…”

Section: Cfeom Subtypessupporting

confidence: 87%

“…We avoid employing superior rectus resection because the superior rectus muscles commonly receive no innervation, and resection will not yield long-lasting results [ 78 ]. Shoshany et al reported that superior oblique tenotomies were helpful in ameliorating upgaze limitations and anomalous head postures for patients with a nasally displaced insertion of the superior oblique muscles [ 21 ]. In addition, for those cases in which the horizontal rectus muscles are mildly affected, upward horizontal rectus muscle transposition is also an option [ 79 , 80 ].…”

Section: Managementmentioning

confidence: 99%

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

Xia

Wei

et al. 2022

Children

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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.

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Section: Cfeom Subtypessupporting

confidence: 87%

Section: Managementmentioning

confidence: 99%

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

Xia

Wei

et al. 2022

Children

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“…Individuals 1 and 2 also had abnormal conjugate eye movements (HP:0000549) with convergence on attempted upgaze (Fig. 1A) and anomalous extraocular muscle insertions at surgery, which are common findings in CFEOM [41]. Individual 3 had learning disabilities (HP:0001328), cognitive delays (HP:0100543) and behavioral challenges (HP:0007018; HP:0010865); Individual 1 had mild learning disability (HP:0001328); and Individual 2 had normal intellectual and social development.…”

Section: Clinical Findingsmentioning

confidence: 89%

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

et al. 2021

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Variants in multiple tubulin genes have been implicated in neurodevelopmental disorders, including malformations of cortical development (MCD) and congenital fibrosis of the extraocular muscles (CFEOM). Distinct missense variants in the beta-tubulin encoding genes TUBB3 and TUBB2B cause MCD, CFEOM, or both, suggesting substitution-specific mechanisms. Variants in the alpha tubulin-encoding gene TUBA1A have been associated with MCD, but not with CFEOM. Using exome sequencing (ES) and genome sequencing (GS), we identified 3 unrelated probands with CFEOM who harbored novel heterozygous TUBA1A missense variants c.1216C>G, p.(His406Asp); c.467G>A, p.(Arg156His); and c.1193T>G, p.(Met398Arg). MRI revealed small oculomotor-innervated muscles and asymmetrical caudate heads and lateral ventricles with or without corpus callosal thinning. Two of the three probands had MCD. Mutated amino acid residues localize either to the longitudinal interface at which α and β tubulins heterodimerize (Met398, His406) or to the lateral interface at which tubulin protofilaments interact (Arg156), and His406 interacts with the motor domain of kinesin-1. This series of individuals supports TUBA1A variants as a cause of CFEOM and expands our knowledge of tubulinopathies.

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“…We have recently expanded on our experience managing CFEOM in patients with and without genetically confirmed CFEOM, focusing on the high likelihood of finding an anomalous superior oblique muscle. 1 We also appreciate his insights on the importance of genetic testing to identify RYR1 mutations in certain children with congenital ophthalmoplegia.…”

Section: Replymentioning

confidence: 91%

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Heidary

Hunter

2020

Journal of American Association for Pediatric Ophthalmology and

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Anomalous superior oblique muscles and tendons in congenital fibrosis of the extraocular muscles

Cited by 12 publications

References 15 publications

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

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

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

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