Absence of Lisch Nodules in Sporadic Neurofibromatosis Type 1 May Reflect Somatic Mosaicism

In a previous issue of the ARCHIVES, Otsuka et al¹ interestingly reported a higher frequency of Lisch nodules in patients with familial neurofibromatosis type 1 (NF1) than in patients with sporadic NF1. They suggest that there is an increased severity of ocular manifestations in familial NF1 cases. We do not think that an increased frequency of Lisch nodules is correlated with the severity of ophthalmological manifestations of NF1, since Lisch nodules are asymptomatic and not correlated with visual impairment or severe optic nerve involvement.