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.
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" 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 115 free, full-text research articles on human participants.
First 3 results:
Journal: Mol Genet Genomic Med. 2017 11;5(6):652-667.
Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. LCA encompasses a group of heterogeneous disorders, with 24 genes currently implicated in pathogenesis. Such clinical and genetic ...
Journal:
Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA.
Journal: Gac Med Mex. ;153(2):276-278.
This is a significant time moment in the field of gene therapy in humans. Recently, results from a phase III clinical trial were published, demonstrating the first gene therapy success for a genetic disease. A clinical trial was carried out in patients suffering a hereditary blindness ...
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 6 free, full-text review articles on human participants.
First 3 results:
Journal: Br J Ophthalmol. 2017 09;101(9):1147-1154.
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field ...
Journal: Ophthalmic Genet.. ;38(1):7-15.
This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins' Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994-1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly ...
Journal:
Recessive null mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene are the cause of LCA6 and account for 5% to 6% of the total patient population. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/LCA5
https://ghr.nlm.nih.gov/condition/senior-loken-syndrome
https://ghr.nlm.nih.gov/gene/CEP290
https://ghr.nlm.nih.gov/gene/SPATA7
https://ghr.nlm.nih.gov/gene/RD3
https://ghr.nlm.nih.gov/gene/TULP1
https://ghr.nlm.nih.gov/gene/LRAT
https://ghr.nlm.nih.gov/gene/RDH12
https://ghr.nlm.nih.gov/gene/CRB1
https://ghr.nlm.nih.gov/gene/AIPL1
https://ghr.nlm.nih.gov/gene/NMNAT1
https://ghr.nlm.nih.gov/gene/GUCY2D
https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy
https://ghr.nlm.nih.gov/gene/RPE65
https://ghr.nlm.nih.gov/gene/MT-ND6
https://ghr.nlm.nih.gov/gene/MT-ND1
https://ghr.nlm.nih.gov/gene/MT-ND4L
https://ghr.nlm.nih.gov/gene/MT-ND4
https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia
There are currently no related results available in GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Leber's 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.