OCULAR ABNORMALITIES IN NEUROFIBROMATOSIS-2

PURPOSE: To evaluate the ocular abnormalities in patients with clinica lly diagnosed neurofibromatosis 2 and asymptomatic gene carriers. METH ODS: Probands were ascertained through a surgical otolaryngology pract ice. In a cross-sectional study, we examined 49 patients with neurofib romatosis 2, 30 offspring of patients, and, as a comparison group, 18 parents and siblings of patients with sporadic neurofibromatosis 2. Th e examination included a complete neuroophthalmic assessment, physical examination, and, for patients and first-degree relatives at risk, cr anial and spinal magnetic resonance imaging with gadolinium enhancemen t, if not previously performed. RESULTS: The most common ocular abnorm alities were posterior subcapsular or capsular, cortical, or mixed len s opacities in 33 (67%) of 49 patients with neurofibromatosis 2 and re tinal hamartomas in 11 (22%). We used segregation analysis to determin e the mutation carrier status of six at-risk offspring who were 30 yea rs old or younger in two multigeneration families, Three asymptomatic mutation carriers had cataracts, whereas those who were predicted not to carry the mutation did not have cataracts. Asymptomatic mutation ca rriers may have developmental abnormalities of the eye that are detect able in childhood or adolescence, a finding that may assist in early d iagnosis of the disease. CONCLUSIONS: A variety of ocular abnormalitie s are present in neurofibromatosis 2, including cataracts, retinal ham artomas, and ocular motor deficits. Many of these are developmental or acquired early in life and may assist in presymptomatic diagnosis. Fo r screening at-risk relatives of patients with neurofibromatosis 2, th e types of cataract that are most suggestive of neurofibromatosis 2 ar e plaque-like posterior subcapsular or capsular cataract and cortical cataract with onset under the age of 30 years.