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

• Published in: BMJ case reports Vol. 2011; no. mar10 1; p. bcr0720103200
• Main Authors: Tanzer, Fatos, Firat, Mehtap, Alagoz, Meral, Erdogan, Haydar
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 15-03-2011; BMJ Publishing Group
• Series: Rare disease
• Subjects: Age; Biomarkers - blood; Biomarkers - urine; Child; Cystinuria - etiology; Diet; Enzymes; Europe (East); Female; Gyrate Atrophy - blood; Gyrate Atrophy - diagnosis; Gyrate Atrophy - drug therapy; Gyrate Atrophy - urine; Humans; Lysine - urine; Macular degeneration; Metabolic disorders; Night Blindness - etiology; Ornithine - blood; Ornithine - urine; Plasma; Pyridoxine - therapeutic use; Rare Disease; Vitamin B Complex - therapeutic use; White
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr.07.2010.3200

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.