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 109 free, full-text research articles on human participants.
First 3 results:
Journal: Gene Ther.. 2016 Dec;23(12):857-862.
Leber congenital amaurosis is a group of inherited retinal dystrophies that cause severe sight impairment in childhood; RPE65-deficiency causes impaired rod photoreceptor function from birth and progressive impairment of cone photoreceptor function associated with retinal degeneration. ...
Journal:
Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA.
Journal: Am. J. Pathol.. 2016 Jul;186(7):1925-38.
The nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) enzyme is essential for regenerating the nuclear pool of NAD(+) in all nucleated cells in the body, and mounting evidence also suggests that it has a separate role in neuroprotection. Recently, mutations in the NMNAT1 gene ...
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 5 free, full-text review articles on human participants.
First 3 results:
Journal: Br J Ophthalmol. 2017 Sep;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:
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 ...
Journal:
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous group of diseases that account for the most severe form of early-onset retinal dystrophy. Mutations in retinal guanylate cyclase-1 (GUCY2D) are associated with LCA1, a prevalent form. GUCY2D encodes guanylate ...
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/gene/CEP290
https://ghr.nlm.nih.gov/condition/senior-loken-syndrome
https://ghr.nlm.nih.gov/gene/SPATA7
https://ghr.nlm.nih.gov/gene/RD3
https://ghr.nlm.nih.gov/gene/LRAT
https://ghr.nlm.nih.gov/gene/RDH12
https://ghr.nlm.nih.gov/gene/TULP1
https://ghr.nlm.nih.gov/gene/CRB1
https://ghr.nlm.nih.gov/gene/NMNAT1
https://ghr.nlm.nih.gov/gene/AIPL1
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-hyperinsulinism
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.