Fibrovascular Retinal Membrane and Tractional Retinal Detachment in a Pediatric Patient With Neurofibromatosis Type 1: Case Report.

Source: PubMed, NCBI / U.S. National Library of Medicine

Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder caused by mutations in thegene and is commonly associated with ocular manifestations such as Lisch nodules, optic pathway gliomas, and choroidal abnormalities. Retinal structural changes are rarely reported. The authors describe a 3-year-old girl with NF1 who presented with decreased vision in her left eye. Ophthalmic imaging revealed an epiretinal fibrovascular membrane with vitreoretinal traction, cystic macular changes, and localized tractional retinal detachment (TRD) with a retinal tear. RetCam (Clarity Medical Sysetms, Inc) imaging and fluorescein angiography demonstrated vitreous opacities, fibrovascular adhesions, and vascular leakage. Systemic examination identified multiple café-au-lait spots and a plexiform neurofibroma confirmed by histopathology. The patient underwent pars plana vitrectomy with membrane removal and silicone oil tamponade, resulting in stable retinal attachment during follow-up. This case expands the spectrum of retinal manifestations associated with NF1 and highlights the importance of regular ophthalmic surveillance in affected children.