Ophthalmic manifestations in patients with syndromic craniosynostosis
2021
Context: Congenital craniofacial anomalies are a rare group of disease. Ophthalmological involvement in craniofacial synostosis ranges from mild aesthetic abnormality to sight threatening damage to optic nerve.
Aim: Study the ophthalmic manifestations in patients with syndromic craniosynostosis.
Materials and Methods: Patients diagnosed to have syndromic craniosynostosis underwent complete ophthalmic evaluation including visual acuity by age appropriate method, cycloplegic refraction, strabismus evaluation, anterior segment and fundus evaluation. Measurement of proptosis, inter pupillary, inter inner canthal and inter outer canthal distances were also done.
Results: 22 patients were studied. 12(54.5%) were male and 10(45.5%) were female. 9(40.9%) had Crouzon syndrome, 8(36.4%) had Apert syndrome, 2(9.1%) each had Frontonasal dysplasia and Pfeiffer syndrome and 1(4.5%) had Antley-Bixler syndrome. All of them had some ophthalmic involvement. Hypertelorism was seen in 54.5%, telecanthus in 27.3%, proptosis was seen in 63.6%, 64.3% of which was non-axial; extra-ocular muscle abnormalities was seen in 72.7%, strabismus in straight gaze in 54.5%, ametropia was seen in 40.9%, visual impairment was seen in 18.2%, anterior segment and optic disc abnormalities were seen in 64.6% each.
Conclusion: Ophthalmic involvement among the syndromes was more common with Crouzon syndrome. Ophthalmic evaluation should be an integral part of evaluation of the craniosynostosis patient.
Keywords: Craniosynostosis, Apert syndrome, Crouzon syndrome
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