Gyrate Atrophy of Choroid and Retina (GACR)

脉络膜视网膜回旋状萎缩(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

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

视网膜和脉络膜的Gyrate Atrophy, 也被称为鸟氨酸转氨酶缺乏症，与黄斑视网膜水肿和鸟氨酸血症有关。与Gyrate Atrophy of Choroid and Retina相关的基因是OAT（鸟氨酸转氨酶），其相关通路/超级通路包括视觉光转导和视网膜杆细胞的视觉周期。在该疾病的背景下提到了Ornithine和Arginine这两种药物。相关组织包括视网膜和眼睛，相关表型为进行性视力丧失和近视。

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