Leber Plus Disease (CRB)

Leber Plus Disease(来自ICD-11)

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Leber Plus Disease, also known as leber congenital amaurosis, is related to leber congenital amaurosis 16 and leber congenital amaurosis 12, and has symptoms including ataxia, static tremor and photophobia. An important gene associated with Leber Plus Disease is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. The drugs Idebenone and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include Eye and retina, and related phenotypes are abnormality of retinal pigmentation and severely reduced visual acuity

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