Leber congenital amaurosis 8

Common Name(s)

Leber congenital amaurosis 8

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}). For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leber congenital amaurosis 8" for support, advocacy or research.

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leber congenital amaurosis 8" for support, advocacy or research.

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 8" returned 2 free, full-text research articles on human participants. First 3 results:

Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis.
 

Author(s): Cristy A Ku, Vince A Chiodo, Sanford L Boye, Andrew F X Goldberg, Tiansen Li, William W Hauswirth, Visvanathan Ramamurthy

Journal: Hum. Mol. Genet.. 2011 Dec;20(23):4569-81.

 

Defects in the photoreceptor-specific gene aryl hydrocarbon receptor interacting protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding disease with early-onset retinal degeneration and vision loss. Furthermore, Aipl1 defects are characterized ...

Last Updated: 31 Dec 1969

Go To URL
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.
 

Author(s): Mei Hong Tan, Alexander J Smith, Basil Pawlyk, Xiaoyun Xu, Xiaoqing Liu, James B Bainbridge, Mark Basche, Jenny McIntosh, Hoai Viet Tran, Amit Nathwani, Tiansen Li, Robin R Ali

Journal: Hum. Mol. Genet.. 2009 Jun;18(12):2099-114.

 

Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) are clinically heterogeneous and present as Leber Congenital Amaurosis, the severest form of early-onset retinal dystrophy and milder forms of retinal dystrophies such ...

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Leber congenital amaurosis 8" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.