Neurofibromatosis Type 1 (NF1)–Related Ocular Signs: New Insights on Their Prevalence, Incidence, and Genotype-Phenotype Correlation in NF1 Children

Data on prevalence and incidence of NF1-related ocular signs in pediatric patients evidences that the development of these signs seems negligible after the age of 7. LNs and CAs seem to develop independently and, therefore, can be considered as two separate diagnostic criteria. Truncating mutations correlate with a higher number of NF1-related ocular signs phenotype. Note: Publication of this article is sponsored by the American Ophthalmological Society.