Proliferative retinopathy in nail-patella syndrome

Nail-Patella Syndrome (NPS) is a rare autosomal dominant disease. Associated ocular abnormalities in NPS are well established, involving the anterior segment and predisposition to open-angle glaucoma. We report a patient with NPS who presented with bilateral proliferative retinopathy and cystoid macular edema (CME).

A 45-year-old male with genetically confirmed NPS presented with typical systemic features of NPS, including dystrophic nails, hypoplastic patellae, and limited elbow extension. He had vision loss associated with optic disc neovascularization (NVD), vitreous hemorrhage, and CME in both eyes. Systemic work-up ruled out common causes of proliferative retinopathy. Treatment with intravitreal bevacizumab and subsequent aflibercept injections partially improved the retinal pathology.

This case documents retinal abnormalities, specifically proliferative retinopathy and CME, in a patient with NPS. These findings suggest that retinal pathology might be an aspect of NPS, highlighting the importance of fundus exams and retinal imaging for patients with NPS who present with visual symptoms.