title: [Iris nodules, ocular findings and blood grouping in neurofibromatosis].
abstract: Through the analyses of 22 cases of neurofibromatosis (NF) patient ranging from 3 months to 63 yrs. old. We found that 4 cases had bilateral hearing loss and 2 of them were excluded from acoustic neuroma. The ocular appearance showed lid neurofibroma in 12 cases, orbital bone abnormalities in 4 cases, iris nodules in 20 cases (90%), congenital glaucoma (4 eyes) in 3 cases which showed abnormal gonioscopy in 3 eyes, lens opacity in 2 cases, mild and moderate myopia in 8 eyes, and high myopia in 7 eyes, occupying 16% of the total. 11 cases belong to 5 pedigrees showing autosomal dominant inheritance. The ABO and MN blood grouping of the NF cases and families in the pedigree showed that NF was more related to ABO than MN blood group. The ocular appearance, especially the shape and number of iris nodules in relation to age and diagnosis is discussed. The significance of 1 case of retinitis pigmentosa, 7 cases of high myopia in relation with NF should be further studied.
authors.forename: Q Y
authors.initials: QY
authors.lastname: Ma
authors.forename: L H
authors.initials: LH
authors.lastname: Zeng
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Chen
authors.forename: L Y
authors.initials: LY
authors.lastname: Wu
authors.forename: W S
authors.initials: WS
authors.lastname: Mao
mesh_terms: D000293:Adolescent; D000328:Adult; D001789:Blood Group Antigens; D002648:Child; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007499:Iris Diseases / Q000150:complications* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009455:Neurofibroma / Q000097:blood / Q000150:complications* / Q000235:genetics
chemical_list: D001789:Blood Group Antigens