(en) We report the case of a nine-year-old girl with Noonan syndrome (mutation in the PTPN11 gene), who was referred by her pediatric ophthalmologist after incidental finding of a retinal lesion in the left eye. We noticed hypertelorism on external examination. The best visual acuity was 20/25 in the right eye and 20/32 in the left eye with correction of mild myopia and astigmatism in both eyes. [...]
Lallau, V., Bartoszek, P., Lhoir, S., Aeby, A., & Postelmans, L. (2022). Noonan syndrome associated with retinal cavernous hemangioma and atypical epiretinal membrane: Case report. Journal français d’ophtalmologie, 45(3), e125-e127. https://doi.org/10.1016/j.jfo.2021.08.013 (Original work published 2022)