Are Lisch nodules an ocular marker of the neurofibromatosis gene in otherwise unaffected family members?
A male patient with classical neurofibromatosis is reported. Examination of the other family members revealed 2 patients with solitary cutaneous neurofibromas and 2 with one or more Lisch nodules without other cutaneous or systemic signs of neurofibromatosis. This suggests that Lisch nodules can be a marker for the neurofibromatosis gene in otherwise unaffected family members.
D000328:Adult; D007644:Darier Disease / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007499:Iris Diseases / Q000235:genetics*; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D014604:Uveal Neoplasms / Q000235:genetics*