PURPOSE: To report a 14-year-old boy with unilateral Lisch nodules without any other diagnostic features of neurofibromatosis type 1. DESIGN: Observational case report. METHODS: A complete ophthalmologic examination and medical genetics examination was performed. RESULTS: By clinical examination, multiple Lisch nodules were identified in the left eye. CONCLUSIONS: Lisch nodules, in the absence of other diagnostic features of neurofibromatosis type 1, are an atypical finding.
PURPOSE: To report a 14-year-old boy with unilateral Lisch nodules without any other diagnostic features of neurofibromatosis type 1. DESIGN: Observational case report. METHODS: A complete ophthalmologic examination and medical genetics examination was performed. RESULTS: By clinical examination, multiple Lisch nodules were identified in the left eye. CONCLUSIONS: Lisch nodules, in the absence of other diagnostic features of neurofibromatosis type 1, are an atypical finding.
Authors: Virginia Miraldi Utz; Diana S Brightman; Monica A Sandoval; Robert B Hufnagel; Howard M Saal Journal: Am J Med Genet C Semin Med Genet Date: 2020-09-05 Impact factor: 3.359