Retinitis pigmentosa: an unusual ocular manifestation in a patient with neurofibromatosis type 1

Neurofibromatosis type 1 (NF1 MIM 162200) is a rare genetic disorder with an autosomal dominant transmission and an estimated incidence of 1:2500-3000 live birth. in about 50% of individuals, the disease is caused by a spontaneous mutation and in the other 50%, the disease is inherited. Penetrance is virtually 100%, but the expres- sion is highly variable almost every organ can be affected. We report herein for the first time the occurrence of retinitis pigmentosa in a patient affected by NF1