Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6

BMJ Case Rep. 2011 Mar 15:2011:bcr0720103200. doi: 10.1136/bcr.07.2010.3200.

Abstract

In this report, an 8-year-old girl is presented with the complaint of progressive night blindness. The authors have performed eye funduscopy, which showed chorioretinal atrophy in gyrate shape. A high level of plasma ornithine was determined. Urinary excretion of ornithine as well as lysine and cystine were increased. Patient was treated with high dose pyridoxine supplement (500 mg/dl). The night blindness condition of the patient improved. After 1 month of pyridoxine therapy ornithine level of her plasma was successfully reduced and blindness improved.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / blood
  • Biomarkers / urine
  • Child
  • Cystinuria / etiology
  • Female
  • Gyrate Atrophy / blood
  • Gyrate Atrophy / diagnosis*
  • Gyrate Atrophy / drug therapy
  • Gyrate Atrophy / urine
  • Humans
  • Lysine / urine
  • Night Blindness / etiology
  • Ornithine / blood
  • Ornithine / urine
  • Pyridoxine / therapeutic use*
  • Vitamin B Complex / therapeutic use*

Substances

  • Biomarkers
  • Vitamin B Complex
  • Ornithine
  • Lysine
  • Pyridoxine