The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery.

BACKGROUND

Pfeiffer syndrome is a rare, genetic condition characterized by craniosynostosis and midface hypoplasia, with resultant ophthalmic sequelae. The gold standard of treatment is fronto-orbital advancement. We analyzed a large database of Pfeiffer syndrome patients to report the rate of ophthalmic sequelae and the long-term visual outcomes after craniofacial surgery and to compare Pfeiffer syndrome to other craniosynostosis syndromes.

METHODS

The medical records of Pfeiffer syndrome patients examined between 1988 and 2010 were examined retrospectively. Diagnosis was based on clinical and genetic testing. Long-term data were presented as a rate of incidence per person-year to overcome variable follow-up times.

RESULTS

A total of 22 patients were included. Proptosis (n = 21 [95%]), refractive error (n = 13 [59%]), and strabismus (n = 12 [55%]) were the most common primary features at presentation. Exposure keratitis (n = 9 [41%]) and amblyopia (n = 3 [14%]) were the most common secondary features. At presentation, 24 eyes [86%] with documented best-corrected visual acuity were normal; 4 [14%] were impaired; and none were blind. Fronto-orbital advancement reduced the rate of proptosis from 28%/person-year at presentation to 2%/person-year. There were no cases of active exposure disease postoperatively. At last follow-up, there was a 7%/person-year rate of impaired vision secondary to corneal scarring and amblyopia and a 3%/person-year rate of blindness-all from optic atrophy.

CONCLUSIONS

In this study, the rates of proptosis and exposure keratitis were high in Pfeiffer syndrome, especially compared to Apert and Crouzon syndromes. Fronto-orbital advancement was successful in correcting orbital abnormalities. Long-term ophthalmic follow-up is essential to ensure best visual outcome.