脳回転状網脈絡膜萎縮症

Gyrate atrophy of the choroid and retina

　脳回転状網脈絡膜萎縮症は，稀な劣性遺伝子による遺伝性眼底疾患であるが，近年，体液生化学異常が発見され注目されつつある。17歳男子と23歳男子にみられた症例を報告した。両症例とも定型的な臨床像をしめし，かつ高オルニチン血症およびオルニチン尿の所見が追認された。本疾患に対する認識を広める目的で眼底写真とともに症例を提示した。

Two young males with gyrate atrophy of the choroid and retina are presented. They showed a typical clinical picture of the disease, and ornithine levels in the plasma and urine were significantly elevated in both patients, whereas other amino acids were within normal limits. Similar biochem-ical abnormalities were not demonstrated in pa-tients with primary pigmentary retinal degenera-tion. The confirmatory findings lend support to a view that hyperornithinemia and ornithinuria in gyrate atrophy of the choroid and retina may probably be unique among hereditary retinochoroidal dis-eases.