Successful Management of Familial Exudative Vitreoretinopathy with a Large Macular Hole Using Inverted Internal Limiting Membrane Flap Technique.

Introduction: This case report aims to shed light on a rare presentation of familial exudative vitreoretinopathy (FEVR) co-existing with a large full-thickness macular hole (FTMH) in a 16-year-old male and discuss its successful surgical management, thereby adding to the limited existing knowledge on this topic.

Case presentation: Over an 8-month period, the patient had experienced progressively worsening visual blurring and distortion in his left eye. Following a comprehensive examination, diagnosis confirmed FEVR and an accompanying large FTMH. It was hypothesized that this unusual manifestation resulted from the tractional forces exerted by a thick posterior vitreous membrane and a thin epiretinal membrane - a distinctive attribute of FEVR. The patient underwent surgical intervention, which included pars plana vitrectomy (PPV), internal limiting membrane (ILM) peeling, gas tamponade, and the inverted ILM flap technique. Postoperative outcomes were favorable, with the FTMH successfully closed and substantial improvement observed in the patient's visual acuity at the 3-month follow-up visit.

Conclusion: This case report highlights a rare association of FEVR with FTMH, thereby broadening our understanding of potential complications in patients with FEVR. The successful surgical intervention reinforces the utility of the PPV and the inverted ILM flap technique in managing such complications. It underscores the need for clinicians to maintain vigilance for such atypical manifestations in FEVR patients.