title: Iris hamartomata as diagnostic criterion in neurofibromatosis.
abstract: We have investigated a personal series of 90 patients with the ("classical") peripheral form of neurofibromatosis (NF) for iris hamartomata (IH). Of subjects aged 6 years or older, 97% had IH. IH were unilateral in 8 patients. IH were not found in 44 unaffected first degree relatives of patients with NF or in normal persons seen during the study period. We consider IH a reliable diagnostic criterion to be added to the list of diagnostic features. In childhood the incidence of IH exceeds that of cutaneous neurofibromas and axillary freckling.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006222:Hamartoma / Q000175:diagnosis*; D006801:Humans; D007499:Iris Diseases / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D014604:Uveal Neoplasms / Q000175:diagnosis*