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 "nystagmus" symptom

  • aniridia
  • gm1 gangliosidosis
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • oculocutaneous albinism
  • primary hyperoxaluria type 1
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated