Optic disc coloboma and contralateral optic disc pit maculopathy treated by vitrectomy in a patient with Noonan syndrome with multiple lentigines

Purpose To report a case of Noonan syndrome with multiple lentigines with unusual ocular features. Methods The authors describe a case of a Seven-year-old girl with Noonan syndrome with multiple lentigines and anomalous optic discs. Results A Seven-year-old girl with genetically proven Noonan syndrome with multiple lentigines (PTPN11 gene mutation) and anomalous optic discs was referred for treatment of persistent macular detachment after 1 year of conservative follow up. The right eye demonstrated an optic disc coloboma with best-corrected visual acuity of 20/32, the left eye demonstrated an optic disc pit with serous macular detachment (best-corrected visual acuity 20/50 - 20/80). Optical coherence tomography demonstrated a neurosensory detachment. 25 gauge pars plana vitrectomy was performed with posterior hyaloid detachment, drainage over disc pit area and SF6 20% gas tamponade. Surgery resulted in subretinal fluid reduction and improvement of visual acuity to 20/32. Conclusion A case of Noonan syndrome with multiple lentigines with optic disc coloboma in the right eye and optic disc pit with related maculopathy in the left eye. To the authors' knowledge, this is the first reported case describing the association of Noonan syndrome with multiple lentigines and congenital optic disc anomalies. Optic disc pit maculopathy was managed surgically due to its longstanding nature with deteriorating visual acuity.