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.

Long-term visual outcomes in patients with orbitotemporal neurofibromatosis.

BACKGROUND: The study aimed to review the presentation and long-term visual outcomes of patients with orbitotemporal neurofibromatosis. DESIGN: Retrospective case series. PARTICIPANTS: Patients with orbitotemporal neurofibromatosis presenting from 1981 to 2009. METHODS: Demographic data, examination findings, causes of vision impairment and interventions performed were recorded for each patient from presentation through subsequent follow-up encounters. Visual impairment was defined as an ipsilateral Snellen acuity of <6/12. MAIN OUTCOME MEASURES: The proportion of patients with visual impairment or enucleation, the rate of new vision loss during follow up; and causes for vision loss or enucleation. RESULTS: Thirty-seven patients (17 female) were included. Median presenting age was 15 years (range 2-45) with an average follow up of 7.4 years (range 0.5-20.3). Visual impairment occurred in 54% of patients at presentation. Causes were amblyopia (13 of 37), optic atrophy (4 of 37), previous enucleation/evisceration (2 of 37), and optic nerve glioma (1 of 37). At presentation, 76% of patients had ptosis, and 51% had strabismus. Thirty-one patients had surgery, with an average of two procedures per patient. At final follow up, 62% had visual impairment. The rate of visual decline was 2% per patient-years. Causes of visual decline were two patients with optic nerve atrophy, one with exposure keratitis and one whose cause was unknown. Five blind patients had enucleation. CONCLUSIONS: The first series of orbitotemporal neurofibromatosis to focus on visual outcomes was presented. Vision loss is common, with a high prevalence of amblyopia. Close monitoring from an early age is needed to prevent visual impairment.

Long-term outcomes after adjunctive topical 5-flurouracil or mitomycin C for the treatment of surgically excised, localized ocular surface squamous neoplasia.

BACKGROUND: To report rates of recurrence and complications of localized ocular surface squamous neoplasia treated with 5-fluorouracil or mitomycin C as adjunctive treatment to surgical excision. DESIGN: Long-term follow up of two prospective, non-comparative interventional case series. PARTICIPANTS: One hundred fifty-three eyes with histologically confirmed localized, non-invasive ocular surface squamous neoplasia. 89 eyes were treated with adjuvant 5-fluorouracil and 64 eyes were treated with adjuvant mitomycin C. METHODS: Following surgical excision±cryotherapy patients received topical 5-fluorouracil 1% four times daily for two weeks or topical mitomycin C 0.04% four times daily for two to three 1-week cycles. MAIN OUTCOME MEASURES: Ocular surface squamous neoplasia recurrence, complications of therapy and compliance. RESULTS: Median follow up was 33.6 (range 12-84) months and 57.9 (range 12-160) months in 5-fluorouracil and mitomycin C groups, respectively. There was one recurrence in the 5-fluorouracil group and no recurrences in the mitomycin C group. Side-effects occurred in 69% of 5-fluorouracil patients and 41% of mitomycin C patients. Five patients (6%) required intervention for treatment-related side-effects in the 5-fluorouracil group versus 11 (17%) in the mitomycin C group. No vision-threatening complications were noted. CONCLUSIONS: Long-term recurrence of localised ocular surface squamous neoplasia is rare when topical 5-fluorouracil or mitomycin C are used as adjunctive treatment to surgical excision. While side-effects are common, the majority are transient and rarely limit compliance.