Abstract

We present the case of a 2.5-month-old boy with type 1 primary hyperoxaluria and severe systemic oxalosis resulting in massive retinal crystalline deposition. Maculopathy was demonstrated by optical coherence tomography, and nystagmus was present. Electroretinography demonstrated retinal dysfunction, unusual in oxalosis.

DOI 10.1016/j.jaapos.2010.12.015