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.

Diseases presenting "hyperoxaluria" symptom

  • cystinuria
  • neonatal adrenoleukodystrophy
  • primary hyperoxaluria type 1

This symptom has already been validated