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Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome
I A Chaudhry1, J Morales, F A Shamsi
1The King Khaled Eye Specialist Hospital, Al-Aruba Street, Riyadh, Saudi Arabia. orbitdr@yahoo.com
Purpose:
To report clinical observations and surgical management in a large series of patients with orbitofacial neurofibromatosis type 1 (OFNF).
Patients And Methods:
Patients were identified and medical records reviewed for demographic data, ophthalmologic examinations, surgical interventions, and procedure outcome to create a retrospective, non-comparative case series of patients with OFNF seen at one medical centre over a 23-year period.
Results:
Sixty patients with OFNF (31 females and 29 males; mean age, 14 years) were followed for an average of 5.7 years. Presenting signs and symptoms included eyelid swelling in all patients, ptosis in 56 (93.3%), proptosis in 34 (56.6%), dystopia or strabismus in 30 (50%), and decreased visual acuity in 50 (83.3%). Surgical intervention included ptosis repair in 54 (90%; mean 1.6 surgical procedures), facial and orbital tumour debulking in 54 (90%; mean 2.3 surgeries), and canthoplasty in 28 (46.6%) patients. Eleven patients required enucleation or exenteration of a blind eye.
Conclusion:
Patients with OFNF often require multiple procedures to preserve vision, prevent additional disfigurement, and achieve cosmetic rehabilitation. Patients need regular ophthalmological monitoring given the potential for progressive visual and cosmetic consequences.
