Visual function in neurofibromatosis.

OBJECTIVES: To evaluate the visual function in patients with neurofibromatosis (NF) and to study the etiology and incidence of visual dysfunction associated with NF.

PATIENTS AND METHODS: A total of 75 patient with diagnostic criteria for NF were evaluated. Neuro-ophthalmological examination as well as electrophysiological and imaging studies were performed. Special attention was given to the presence of visual dysfunction and to its correlation with the ophthalmic changes that were found.

RESULTS: Ocular findings were present in 42 (56%) patients. Visual dysfunction was identified in only 11 (14.7%) patients. Visual acuity decrease was the most prevalent change, being present in eight (72.7%) of patients with visual dysfunction. Nystagmus, strabismus, visual field defects, and color vision defects were also detected. Therapy is also reviewed. The prognosis of the 11 patients with visual dysfunction was unfavorable, and is discussed.

CONCLUSION: The prevalence of NF and ophthalmological findings related to it make the problem of visual dysfunction in NF a serious one, deserving of the attention of all ophthalmologists. Clinical examination, associated with complementary diagnostic techniques (mainly imaging studies), allows NF's identification, definition, and therapy. The high prevalence of asymptomatic ocular findings in NF (73.8%) highlights the role of imaging techniques in its evaluation.