title: Lens opacities in neurofibromatosis 2: further significant correlations.
abstract: This prospective study of 96 individuals from 29 families with neurofibromatosis 2, 49 of whom were affected, confirms in an extended series the previously reported association between posterior subcapsular/capsular cataract and neurofibromatosis 2. Posterior subcapsular/capsular cataracts were found in 36 (80%) of the 45 affected individuals (four individuals were excluded from statistical analyses). In addition, the association of peripheral cortical lens opacities with neurofibromatosis 2 was found to be statistically significant. Seventeen of the patients with neurofibromatosis 2 (37.8%) had peripheral cortical cataracts in comparison with none of the unaffected family members (p < 0.0001). In three patients peripheral cortical opacities were present despite the absence of posterior subcapsular/capsular cataracts. These findings support the inclusion of cortical cataracts of early onset, in addition to posterior subcapsular/capsular cataracts, in the diagnostic criteria of neurofibromatosis 2.
authors.affiliation: National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: E A
authors.initials: EA
authors.lastname: Bouzas
authors.forename: V
authors.initials: V
authors.lastname: Freidlin
authors.forename: D M
authors.initials: DM
authors.lastname: Parry
authors.forename: R
authors.initials: R
authors.lastname: Eldridge
authors.forename: M I
authors.initials: MI
authors.lastname: Kaiser-Kupfer
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002386:Cataract / Q000209:etiology* / Q000473:pathology; D002648:Child; D005190:Family; D005260:Female; D006801:Humans; D007904:Lens Cortex, Crystalline / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000150:complications* / Q000235:genetics; D011446:Prospective Studies