Leber congenital amaurosis
Common Name(s)
Leber congenital amaurosis
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Leber congenital amaurosis" for support, advocacy or research.
The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.
The RDH12 Fund for Sight is a nonprofit organization founded by parents of children diagnosed with LCA caused by mutations in RDH12 to accomplish three main goals: build a support network of families dealing with common issues and difficulties to share their experiences, raise awareness of LCA and RDH12 and gain a better understanding of the disease, and advocate for and fund development of a cure for LCA caused by RDH12.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Leber congenital amaurosis" for support, advocacy or research.
The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.
http://www.blindness.org The RDH12 Fund for Sight is a nonprofit organization founded by parents of children diagnosed with LCA caused by mutations in RDH12 to accomplish three main goals: build a support network of families dealing with common issues and difficulties to share their experiences, raise awareness of LCA and RDH12 and gain a better understanding of the disease, and advocate for and fund development of a cure for LCA caused by RDH12.
http://www.rdh12.org/Recommended Apps
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.
Finding the right clinical trial for Leber congenital amaurosis can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
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" returned 102 free, full-text research articles on human participants.
First 3 results:
Journal: Invest. Ophthalmol. Vis. Sci.. 2015 Nov;56(12):7130-6.
To investigate visual function in patients with CEP290 Leber congenital amaurosis (LCA-CEP290), using three full-field tests that can be performed by patients with poor fixation.
Journal:
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% of all retinal dystrophies; whereas ...
Journal: Invest. Ophthalmol. Vis. Sci.. 2015 Jun;56(6):3642-55.
Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. To evaluate the mutation spectrum in the Chinese population, we performed a mutation screen in 145 Chinese LCA families.
To view other free, full-text articles on human participants, please click on the link below.
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" returned 3 free, full-text review articles on human participants.
First 3 results:
Journal: Prog Retin Eye Res. 2010 Sep;29(5):398-427.
Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid isomerase enzyme essential for the production ...
Journal: J Fr Ophtalmol. 2005 Jan;28(1):98-105.
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor ...
Journal: Hum. Mol. Genet.. 2002 May;11(10):1169-76.
Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients. These genes ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
There are currently no related results available in Genetics Home Reference.
There are currently no related results available in GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Leber Congenital Amaurosis
Condition Summary: Leber Congenital Amaurosis
Condition Summary: Leber Congenital Amaurosis
Finding the right clinical trial for Leber congenital amaurosis can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.