Retinal imaging insights in oxalosis

A 14-year-old girl with Type 1 primary hyperoxaluria and end-stage renal disease, receiving continuous ambulatory peritoneal dialysis since infancy, presented with progressive bilateral visual decline over the past year. Best-corrected visual acuity was 6/18 in the right eye and 6/12 in the left eye. Fundus examination revealed extensive bilateral yellow-white, glistening crystalline deposits across the posterior pole and midperiphery, with macular pigmentary changes. Spectral-domain optical coherence tomography of the macula in both eyes showed multiple hyperreflective deposits predominantly at the outer retinal and retinal pigment epithelium (RPE) levels, with prominent posterior shadowing. Primary hyperoxaluria drives endogenous oxalate overproduction. When dialysis clearance is insufficient, systemic and frequently irreversible retinal oxalosis can precipitate. Patients with infantile-onset disease are particularly vulnerable to these ocular manifestations due to an immature choroidal-Bruch's-RPE complex. This case underscores the vital importance of coordinated, multidisciplinary ophthalmic and nephrological screening.