Late-onset retinal oxalosis in primary hyperoxaluria type 2

Abstract

Purpose: To report a previously undescribed case of late-onset vision loss due to retinal oxalosis in a patient with primary hyperoxaluria type 2 (PH2).

Observations: An 82-year-old female with a history of biopsy-proven oxalate nephropathy developed vision loss 8 months after end stage kidney disease. She developed progressive retinal ischemia secondary to crystal deposition. She was presumed to have retinal oxalosis, and genetic testing confirmed PH2. Her retinopathy occurred once renal clearance fellow below hepatic oxalate production. The only effective treatment is kidney transplantation, but this patient was not a candidate.

Conclusions and importance: To date, this is the most delayed-onset and severe reported case of progressive ischemic retinopathy from PH2. Patients with systemic oxalosis should be referred for genetic testing, as there are new RNA interference treatments approved for other subtypes of primary hyperoxaluria.

Keywords: Crystalline retinopathy; Primary hyperoxaluria type 2; Retinal oxalosis.