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Visual loss in orbitofacial neurofibromatosis type 1
Darren T Oystreck1, Jose Morales, Imtiaz Chaudhry
1Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. darrenoystreck@ymail.com
Ophthalmology
|June 20, 2012
Summary
Orbitofacial neurofibromatosis (OFNF) in children often causes significant vision loss, frequently due to multiple factors including amblyopia, glaucoma, and optic pathway glioma. Early detection and management of treatable causes like refractive errors are crucial for preserving sight.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Neurofibromas can affect the orbitofacial region in children with neurofibromatosis type 1, a condition termed orbitofacial neurofibromatosis (OFNF).
- OFNF can lead to various visual impairments in affected children.
Purpose of the Study:
- To evaluate the causes and extent of vision loss in pediatric patients diagnosed with OFNF.
- To identify specific factors contributing to reduced visual acuity in this population.
Main Methods:
- A case series design was employed.
- Retrospective review of medical records and reexamination of 55 patients with OFNF from a single institution.
- Assessment included visual acuity and identification of underlying causes of vision reduction.
Main Results:
- 71% of patients with OFNF experienced visual acuity of 20/60 or worse.
- Common causes of vision loss included amblyopia (29 patients), organic eye disease (19 patients), and correctable refractive errors (12 patients).
- Nine patients also had optic pathway glioma (OPG), a significant cause of visual impairment.
Conclusions:
- Vision loss in OFNF is prevalent, often severe, and multifactorial.
- Conditions like congenital glaucoma, retinal detachment, strabismic amblyopia, and OPG contribute to progressive vision loss.
- Vigilant monitoring for treatable amblyopia causes during visual immaturity and for optic nerve progression in older individuals is essential.
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