Leber congenital amaurosis 15

Common Name(s)

Leber congenital amaurosis 15

Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by {2:Gu et al., 1997}). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; {600132}). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leber congenital amaurosis 15" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Leber congenital amaurosis 15" returned 2 free, full-text research articles on human participants. First 3 results:

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
 

Author(s): Samuel G Jacobson, Artur V Cideciyan, Ramakrishna Ratnakaram, Elise Heon, Sharon B Schwartz, Alejandro J Roman, Marc C Peden, Tomas S Aleman, Sanford L Boye, Alexander Sumaroka, Thomas J Conlon, Roberto Calcedo, Ji-Jing Pang, Kirsten E Erger, Melani B Olivares, Cristina L Mullins, Malgorzata Swider, Shalesh Kaushal, William J Feuer, Alessandro Iannaccone, Gerald A Fishman, Edwin M Stone, Barry J Byrne, William W Hauswirth

Journal: Arch. Ophthalmol.. 2012 Jan;130(1):9-24.

 

To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene.

Last Updated: 10 Jan 2012

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Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
 

Author(s): Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J Fielding Hejtmancik

Journal: PLoS ONE. 2011 ;6(5):e19458.

 

Leber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. So far, full spectrum of variations in the 15 genes known to cause LCA has not been systemically evaluated in East Asians. Therefore, we performed comprehensive detection of ...

Last Updated: 23 May 2011

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The terms "Leber congenital amaurosis 15" returned 0 free, full-text review articles on human participants.

 
 
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