One way to accomplish this is by means of a thorough examination of each parent whose child has been diagnosed with NF1 to determine the presence of café-au-lait spots or Lisch nodules in the iris of ...

This also includes iris freckle, melanocytoma, and Lisch nodules. Iris Nevus. An iris nevus appears as a pigmented or unpigmented spot on the iris, typically about 3 mm in diameter at the base.

Lisch nodules (LNs), which are found in the iris in neurofibromatosis (NF), were discovered in the otherwise unremarkable parents of two unrelated children with NF. While LNs have not been ...

The SPRED1 gene encodes a protein involved in the Ras/MAPK (mitogen-activated protein kinase) signaling pathway. Mutations in SPRED1 have been reported to cause Legius Syndrome, a rare ...

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. TEST DESCRIPTION The ...