Rare Diseases Symptoms Automatic Extraction

Crystalline retinopathy in primary hyperoxaluria.

[primary hyperoxaluria type 1]

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.