Crouzon syndrome is a genetic craniosynostosis disorder where skull sutures fuse too early. This affects facial growth and can have significant eye implications.
Ocular and craniofacial features
Abnormal bone development leads to shallow orbits and midface hypoplasia.
- Proptosis, exposure keratopathy, and strabismus
- Optic nerve compression and raised intracranial pressure in some cases
- Characteristic facial appearance with beaked nose and high forehead
- FGFR2 gene mutations are commonly involved
Management
Treatment is multidisciplinary and begins in childhood.
- Cranial vault and midface surgery to relieve pressure and protect the eyes
- Ophthalmic management of exposure, refractive error, and squint
- Monitoring for amblyopia and optic neuropathy
- Genetic counselling and psychological support for families
