RETINITIS-PIGMENTOSA IN A YOUNG MAN WITH NOONAN SYNDROME - FURTHER EVIDENCE THAT NOONAN SYNDROME (NS) AND THE CARDIO-FACIO-CUTANEOUS SYNDROME (CFC) ARE VARIABLE MANIFESTATIONS OF THE SAME ENTITY

We report on a young man with Noonan syndrome (NS) and retinitis pigme ntosa. As far as we know, retinitis pigmentosa has not been reported i n NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalie s have been found. In addition, decreased vision, refractive errors, s trabismus, and optic disc anomalies were reported in CFC patients. Thi s observation suggests that NS and CFC are variable manifestations of the same entity. (C) 1996 Wiley-Liss, Inc.