Purtscher-like retinopathy causes acute vision loss in 3-year-old with steroid-resistant nephrotic syndrome

Purtscher-like retinopathy is a rare, acute occlusive microvasculopathy leading to sudden, painless visual loss and distinctive retinal lesions. While often trauma-related, it can manifest in systemic conditions like nephrotic syndrome (NS). In NS, mechanisms such as hypercoagulability, complement activation, and microembolization contribute to its pathogenesis. Current standard-of-care for NS focuses on immunosuppression, but complications like this retinopathy highlight the need for vigilance, especially in cases of steroid resistance or specific drug therapies that might exacerbate vascular risk.

This case report details a 3-year-old girl diagnosed with steroid-resistant nephrotic syndrome who presented with acute vision loss, including inability to fixate and intermittent exotropia, without any history of trauma or hypertension. She was receiving prednisolone and cyclosporine (trough 84 ng/mL). Diagnostic workup included fundoscopy to identify retinal lesions, laboratory tests for hypoalbuminemia and proteinuria, and a kidney biopsy to assess renal pathology. Due to concern for drug-induced vasculopathy, cyclosporine was discontinued. Treatment involved intravenous methylprednisolone pulses followed by an oral taper. Whole-exome sequencing was performed to investigate the underlying genetic etiology of her steroid-resistant NS.

The patient presented with acute vision loss, initially at light perception. Fundoscopy revealed bilateral peripapillary retinal whitening with periarteriolar sparing, cotton wool spots, and intraretinal hemorrhages, characteristic of Purtscher-like retinopathy. Laboratory tests confirmed severe hypoalbuminemia (1.7 g/dL) and nephrotic-range proteinuria. A kidney biopsy suggested podocytopathy. Her existing medication regimen included prednisolone and cyclosporine (trough 84 ng/mL), with cyclosporine subsequently discontinued due to concerns about drug-induced vasculopathy. Whole-exome sequencing identified a de novo pathogenic WT1 variant (c.1447 + 5G > A), establishing a genetic etiology (NPHS4) for her steroid-resistant nephrotic syndrome. Following treatment with intravenous methylprednisolone pulses and oral tapering, significant visual improvement was observed. > At 6 months follow-up, her visual acuity improved from light perception to counting fingers at a distance of 2 m.