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.


METHODS
Retrospective case series.


METHODS
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.


METHODS
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.
South Australian Institute of Ophthalmology, Adelaide, South Australia, Australia; Discipline of Ophthalmology and Visual Sciences, University of Adelaide, Adelaide, South Australia, Australia.
Timothy H
TH
Greenwell
Peter J
PJ
Anderson
Simon K
SK
Madge
Dinesh
D
Selva
David J
DJ
David
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005153:Facial Neoplasms / Q000473:pathology* / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000473:pathology* / Q000601:surgery; D009918:Orbital Neoplasms / Q000473:pathology* / Q000601:surgery; D012189:Retrospective Studies; D014786:Vision Disorders / Q000503:physiopathology*; D014792:Visual Acuity / Q000502:physiology*; D019987:Persons with Visual Disabilities; D055815:Young Adult
craniofacial surgery; neurofibromatosis type 1; orbitofacial tumours.