van Trier DC, et al. - In this retrospective study, the researchers described ocular findings in a large Noonan syndrome cohort, as well as identified relationships between ocular features and genetic mutations that were not found in earlier studies. For the purpose of this investigation, they gathered ophthalmological and genetic data of 105 patients (median age, 12 years; range, 0–60 years) clinically diagnosed as Noonan syndrome. They reported that various ocular abnormalities in childhood, including low visual acuity of both eyes leading to visual impairment, were found in a large cohort of patients with Noonan syndrome. It was noted that permanent visual impairment was mainly caused by binocular optic nerve abnormalities and nystagmus was observed in patients with a mutation in RAF1, SHOC2, or KRAS. They suggested that all Noonan syndrome patients should have a complete ophthalmological examination at the time of diagnosis.