Leber Plus Disease (CRB)

莱伯先天性视神经萎缩(来自翻译大模型)

别称:

Leber Congenital Amaurosis

Amaurosis Congenita of Leber

Lhon Plus Disease

Leber's Disease

Congenital Amaurosis of Retinal Origin

Leber's Amaurosis

Lca

Leber's Congenital Tapetoretinal Degeneration

Leber Congenital Tapetoretinal Degeneration

Hereditary Epithelial Dysplasia of Retina

Dysgenesis Neuroepithelialis Retinae

Amaurosis Congenita of Leber, Type 1

Optic Atrophy, Hereditary, Leber

Heredoretinopathia Congenitalis

Leber's Congenital Amaurosis

Congenital Retinal Blindness

Amaurosis, Leber Congenital

Lebers Congenital Amaurosis

Hereditary Retinal Aplasia

Leber Abiotrophy

Crb

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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

Leber Plus Disease,又称Leber先天性黑蒙症，与Leber先天性黑蒙症16和Leber先天性黑蒙症12有关，症状包括共济失调、静止性震颤和畏光。Leber Plus Disease相关的重要基因是GUCY2D（视网膜环磷酸鸟苷环化酶2D），其相关通路/超通路包括视觉光传导和睫状体景观。在该疾病的背景下，提到的药物有Idebenone和Protective Agents。相关组织包括眼睛和视网膜，相关表型为视网膜色素异常和严重视力减退。

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