Surgical Management of Maculopathy in Papillorenal Syndrome: Insights From 2 Cases With PAX2 Mutations

Purpose: To describe the management and outcomes of maculopathy in 3 eyes from 2 patients with papillorenal syndrome, a rare disorder associated with variable ocular manifestations, including cavitary optic nerve anomalies and maculopathy. Methods: A retrospective review of 3 eyes from 2 patients with papillorenal syndrome was performed. Results: Of the 3 eyes affected with maculopathy, 2 underwent pars plana vitrectomy with endolaser and intraocular tamponade, while 1 eye was treated with laser photocoagulation alone. In Case 1, the surgically treated eye achieved complete resolution of the maculopathy 15 months after the second surgery. The fellow eye, treated early with laser photocoagulation alone, demonstrated complete resolution of intraretinal fluid at 2 years. In Case 2, the maculopathy was treated surgically, with resolution of subfoveal fluid by 10 months postoperatively. Conclusions: Our cases highlight the importance of early recognition and timely intervention in papillorenal syndrome–associated maculopathy to prevent vision loss. However, the optimal timing and approach to treatment remain uncertain. Further studies are needed to standardize nomenclature and refine management strategies for this rare condition.