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Published on: April 14, 2014
Long-term visual outcomes in patients with orbitotemporal neurofibromatosis
Timothy H Greenwell1, Peter J Anderson, Simon K Madge
1South Australian Institute of Ophthalmology, Adelaide, South Australia, Australia; Discipline of Ophthalmology and Visual Sciences, University of Adelaide, Adelaide, South Australia, Australia.
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.
