Carpenter syndrome is a rare craniosynostosis syndrome with skull, facial, and limb abnormalities. Eye problems may arise from altered bone structure and development.
Ocular features
Shallow orbits and midface changes can predispose to exposure and strabismus.
- Proptosis, hypertelorism, and down-slanting fissures
- Strabismus, refractive errors, and amblyopia
- Occasional optic nerve anomalies or reduced acuity
- Mutations usually in RAB23 or MEGF8 genes
Management
Multidisciplinary care is essential.
- Craniofacial surgery to address skull shape and raised pressure
- Ophthalmic follow-up for exposure, squint, and visual development
- Hearing, cardiac, and developmental assessments
- Genetic counselling for affected families
