lisch nodules | Ricerc@Sapienza

Lisch nodules in Schwannomatosis: a new manifestation

Schwannomatosis is a syndrome characterized by presence of schwannomas in the absence of bilateral vestibular schwannomas
and meningiomas. Schwannomas interest frequently peripheral nerves (90%) and spinal nerves (75%).
Schwannomatosis are generally sporadic; in 15 - 25% are familiar. The genes involved are SMARCB1 (40-50% of familial) and LZTR1.
The reported phenotype continues to expand and evolve. We report the case of a patient with Schwannomatosis and Lisch
nodules, typical manifestation of NF1.

Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1

Purpose: Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes.