type 1 Amaurosis congenita of Leber

Also Known As:

Amaurosis congenita of Leber, type 1; Amaurosis Congenita Of Leber I; Leber Congenital Amaurosis 1; Leber congenital amaurosis, type 1; Retinal blindness, congenital

Networked: 5 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Retinal Diseases: 3014
  - Leber Congenital Amaurosis: 306
    - type 1 Amaurosis congenita of Leber: 5
- Hereditary Eye Diseases: 18
  - Leber Congenital Amaurosis: 306
    - type 1 Amaurosis congenita of Leber: 5

Related Diseases

1.	Cone-Rod Dystrophies

Experts

1.	Boye, Sanford L: 2 articles (01/2016 - 09/2006)
2.	Dizhoor, Alexander M: 2 articles (01/2016 - 01/2013)
3.	Olshevskaya, Elena V: 2 articles (01/2016 - 01/2013)
4.	Peshenko, Igor V: 2 articles (01/2016 - 01/2013)
5.	Semple-Rowland, Susan L: 2 articles (09/2006 - 10/2004)
6.	Gocho, Kiyoko: 1 article (05/2020)
7.	Igarashi, Tsutomu: 1 article (05/2020)
8.	Kameya, Shuhei: 1 article (05/2020)
9.	Kubota, Daiki: 1 article (05/2020)
10.	Maruyama, Kaori: 1 article (05/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 1 Amaurosis congenita of Leber:

1.	Retinaldehyde (Retinal)IBA 01/01/2013 - "Mutations in GUCY2D cause Leber congenital amaurosis type 1 (LCA1), an autosomal recessive human retinal blinding disease. " 05/15/2020 - "Mutations in the GUCY2D lead to severe retinal disorders such as autosomal dominant cone-rod dystrophy (adCRD) and autosomal recessive Leber congenital amaurosis type 1. The purpose of this study was to identify the phenotype of a Japanese patient with a probably pathogenic GUCY2D variant. " 10/06/2004 - "Specific mutations of the retinal guanylyl cyclase-1 (retGC1) gene have been linked to Leber congenital amaurosis type 1 (LCA1) and cone-rod dystrophies in humans, diseases that are amenable to treatments using molecular based therapies. " 01/01/2016 - "To test, in living photoreceptors, two mutations, S248W and R1091x, in the GUCY2D gene linked to Leber congenital amaurosis 1 (LCA1) that fail to inactivate the catalytic activity of a heterologously expressed retinal membrane guanylyl cyclase 1 (RetGC1). "
2.	Guanylate Cyclase (Guanylyl Cyclase)IBA 01/01/2016 - "To test, in living photoreceptors, two mutations, S248W and R1091x, in the GUCY2D gene linked to Leber congenital amaurosis 1 (LCA1) that fail to inactivate the catalytic activity of a heterologously expressed retinal membrane guanylyl cyclase 1 (RetGC1). "
3.	EnzymesIBA 09/01/2006 - "These findings, which show that fully developed cone cells that have developed in the absence of GC1 can respond to viral-mediated expression of this enzyme, support further analysis of this animal model of Leber congenital amaurosis type 1 (LCA1), a disease that results from null mutations in the gene encoding this enzyme."

Therapies and Procedures

1.	Therapeutics 10/06/2004 - "Specific mutations of the retinal guanylyl cyclase-1 (retGC1) gene have been linked to Leber congenital amaurosis type 1 (LCA1) and cone-rod dystrophies in humans, diseases that are amenable to treatments using molecular based therapies. "