[Ophthalmologic differentiation of various forms of neurofibromatosis].
Neurofibromatosis (NF) is one of the most frequent autosomal-dominant hereditary disorders. The molecular-genetic differentiation of NF 1 and NF 2 has important implications for the ophthalmologist. Among 80 patients with NF 1, Lisch nodules were diagnosed in 83% as typical criteria for the disease. In 6 patients who did not meet the NIH criteria for NF 1 and NF 2, the ophthalmological investigation showed no cataracts or Lisch nodules; thus, the ophthalmological examination can help to confirm a subtype of NF. In 8 out of 22 NF 2 patients a juvenile posterior subcapsular cataract was diagnosed. Our examination demonstrates that the diagnostic value of lens opacities in NF 2 patients--especially for early detection of the disease--must be clarified, especially with regard to the fact that there were no patients with incipient cataract and no neuroradiological criteria for the disease.
Mautner
V F
VF
Neurologische Klinik, Allgemeines Krankenhaus Hamburg-Ochsenzoll.
Hazim
W
W
Guthoff
R
R
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D015811:Iris Neoplasms / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D016518:Neurofibromatosis 2 / Q000145:classification* / Q000175:diagnosis / Q000235:genetics