Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2026
Intraoperative and radiographic indicators of extraocular muscle aberrancy in syndromic craniosynostosis.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Huynh Elisah, Chang Yoon-Hee, Sacharow Stephanie, Prabhu Sanjay P, Dagi Linda R
Аннотация
BACKGROUND: Strabismus is common in syndromic craniosynostosis, often attributed to abnormal extraocular muscle (EOM) trajectory, and orbital anatomy. Absent EOMs have been reported, but the spectrum of primary dysgenesis remains poorly understood. The purpose of this study was to characterize the range of EOM dysgenesis in a large cohort that had undergone strabismus surgery.
METHODS: The medical records of patients with syndromic craniosynostosis treated at Boston Children's Hospital (2010-2023) were reviewed retrospectively to identify all cases with neuroimaging and history of strabismus surgery. Genetic testing results and EOM abnormalities noted on neuroimaging or during surgery were recorded. Imaging was reviewed to determine presence of each EOM. Superior oblique muscle (SO) size was classified as "normal" if its transverse diameter was at least one-half that of the adjacent medial rectus muscle.
RESULTS: A total of 47 patients with syndromic craniosynostosis had undergone strabismus surgery, of whom 43 had available neuroimaging. Syndromic associations were as follows: 10 patients with Crouzon, 21 with Apert, 1 with Muenke, 6 with Pfeiffer, and 5 with Saethre-Chotzen. Rectus and inferior oblique muscles were universally present. SO size was normal in only 15 of 86 eyes (17%). EOM aberrancies were noted intraoperatively in 15 of 43 operative cases (35%), including diaphanous insertions, bifid or fused rectus muscles, and posterior inferior oblique insertions. Results of genetic testing were available for 26 patients, 24 of whom had FGFR2 mutations, including all 10 (of 15) patients with intraoperatively noted EOM aberrancies who underwent genetic testing.
CONCLUSIONS: In this cohort with syndromic craniosynostosis, thin-section or high-resolution orbital imaging demonstrated presence of all rectus muscles even when insertions were diaphanous. The SO was hypoplastic in 83%. Aberrancies noted intraoperatively in 35% likely underestimate the true incidence, because evaluation was limited to muscles targeted for surgery.
METHODS: The medical records of patients with syndromic craniosynostosis treated at Boston Children's Hospital (2010-2023) were reviewed retrospectively to identify all cases with neuroimaging and history of strabismus surgery. Genetic testing results and EOM abnormalities noted on neuroimaging or during surgery were recorded. Imaging was reviewed to determine presence of each EOM. Superior oblique muscle (SO) size was classified as "normal" if its transverse diameter was at least one-half that of the adjacent medial rectus muscle.
RESULTS: A total of 47 patients with syndromic craniosynostosis had undergone strabismus surgery, of whom 43 had available neuroimaging. Syndromic associations were as follows: 10 patients with Crouzon, 21 with Apert, 1 with Muenke, 6 with Pfeiffer, and 5 with Saethre-Chotzen. Rectus and inferior oblique muscles were universally present. SO size was normal in only 15 of 86 eyes (17%). EOM aberrancies were noted intraoperatively in 15 of 43 operative cases (35%), including diaphanous insertions, bifid or fused rectus muscles, and posterior inferior oblique insertions. Results of genetic testing were available for 26 patients, 24 of whom had FGFR2 mutations, including all 10 (of 15) patients with intraoperatively noted EOM aberrancies who underwent genetic testing.
CONCLUSIONS: In this cohort with syndromic craniosynostosis, thin-section or high-resolution orbital imaging demonstrated presence of all rectus muscles even when insertions were diaphanous. The SO was hypoplastic in 83%. Aberrancies noted intraoperatively in 35% likely underestimate the true incidence, because evaluation was limited to muscles targeted for surgery.