Gyrate Atrophy of Choroid and Retina (GACR)

Gyrate Atrophy of Choroid and Retina(来自ICD-11)

别称:

Ornithine Aminotransferase Deficiency

Gyrate Atrophy

Hyperornithinemia

Hoga

Hyperornithinemia with Gyrate Atrophy of Choroid and Retina

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Oat Deficiency

Okt Deficiency

Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia

Hyperornithinemia-Gyrate Atrophy of Choroid and Retina Syndrome

Gyrate Atrophy of the Choroid and Retina

Ornithinemia with Gyrate Atrophy

Gyrate Atrophy of the Retina

Gacr

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Gyrate Atrophy of the Choroid and/or Retina

Atrophy, Gyrate, of Choroid and Retina

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Gyrate Atrophy of Choroid and Retina, also known as ornithine aminotransferase deficiency, is related to macular retinal edema and ornithinemia. An important gene associated with Gyrate Atrophy of Choroid and Retina is OAT (Ornithine Aminotransferase), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. The drugs Ornithine and Arginine have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are progressive visual loss and myopia

查看原文参与反馈