Abstract
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 reported in the absence of NF, there are no studies which test the hypothesis tbat LNs are pathognomonio for NF. Need for accurate counseling of our families prompted a study to determine the frequency of LNs in the general population. All patients in two ophthalmology olinios were examined by slit lamp before dilation for the presence of LNs. Those with iris trauma or surgery were excluded. In the preliminary stage of the study, 600 patients have been screened and two individuals discovered with one or more LNs. The first is a woman with one small LN without evidence of NF by examination or family history. The second is a man with multiple cafe-au-laits and a seizure disorder, in whom a diagnosis of NF was considered following discovery of LNs and proven by biopsy of a skin tumor.
We suggest that LNs may be found in a limited number of individuals without NF. Nevertheless, we recommend examination for LNs in the ophthalmology clinic as a useful screening tool for NF.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Greene, C., Male, W., Coleman, S. et al. LISCH NODULES IN AN UNSELECTED POPULATION: PREVALENCE AND USEFULNESS AS INDICATION OF NEUROFIBROMATOSIS. Pediatr Res 21 (Suppl 4), 227 (1987). https://doi.org/10.1203/00006450-198704010-00368
Issue Date:
DOI: https://doi.org/10.1203/00006450-198704010-00368