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Absence of multiple extraocular muscles in craniosynostosis
1Scottish Rite Children's Medical Center, Atlanta, Georgia 30342, USA.
Summary
Craniosynostosis patients often have strabismus due to missing eye muscles. This study details rare cases of multiple extraocular muscle absences in Pfeiffer and Apert syndromes, highlighting surgical considerations.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Surgery
Background:
- Strabismus is a known complication in craniosynostosis patients, often linked to specific extraocular muscle absences.
- Absence of multiple extraocular muscles is less frequently reported in these patients.
Observation:
- Case 1: A patient with Pfeiffer syndrome presented with absent left superior rectus and inferior oblique muscles, alongside a rudimentary superior oblique and a malformed inferior rectus.
- Case 2: A patient with Apert syndrome exhibited bilateral absence of superior rectus and superior oblique muscles, leading to unexpected complications during strabismus surgery.
Findings:
- This report is the first to document absent extraocular muscles in Pfeiffer syndrome.
- Unrecognized superior rectus absence caused bilateral elevation deficits post-surgery.
- Complete disinsertion of three recti muscles occurred in one eye during treatment.
Implications:
- The findings suggest a need for thorough ocular muscle exploration in craniosynostosis patients undergoing strabismus surgery.
- Further research is warranted to explore the potential of using remaining muscles for strabismus repair in cases of muscle absence.
- Evidence suggests potential collateral blood flow in the anterior segment when recti muscles are absent.