Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.
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.
Department of Pediatric Metabolism, Cumhuriyet University Medical Faculty, Sivas, Turkey. fatostanzer@gmail.com
Fatos
F
Tanzer
Mehtap
M
Firat
Meral
M
Alagoz
Haydar
H
Erdogan
D015415:Biomarkers / Q000097:blood / Q000652:urine; D002648:Child; D003555:Cystinuria / Q000209:etiology; D005260:Female; D015799:Gyrate Atrophy / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000652:urine; D006801:Humans; D008239:Lysine / Q000652:urine; D009755:Night Blindness / Q000209:etiology; D009952:Ornithine / Q000097:blood / Q000652:urine; D011736:Pyridoxine / Q000627:therapeutic use*; D014803:Vitamin B Complex / Q000627:therapeutic use*
D015415:Biomarkers; D014803:Vitamin B Complex; D009952:Ornithine; D008239:Lysine; D011736:Pyridoxine