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.
https://www.fightblindness.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 106 free, full-text research articles on human participants.
First 3 results:
Journal: J. Med. Genet.. 2013 Oct;50(10):674-88.
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An accurate molecular diagnosis can refine the clinical diagnosis and allow gene specific treatments.
Journal:
Leber congenital amaurosis (LCA) is a genetically heterogeneous disease with, to date, 19 identified causative genes. Our aim was to evaluate the mutations in all 19 genes in Chinese families with LCA.
Journal: Ophthalmology. 2013 Jun;120(6):1283-91.
The aim of this study was to show the clinical data of long-term (3-year) follow-up of 5 patients affected by Leber congenital amaurosis type 2 (LCA2) treated with a single unilateral injection of adeno-associated virus AAV2-hRPE65v2.
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 GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Leber Congenital Amaurosis
Condition Summary: Inherited Retinal Dystrophy Due to RPE65 Mutations
Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome
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.