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Leber Congenital Amaurosis

Subscribe to New Research on Leber Congenital Amaurosis

A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.

Also Known As:

Amauroses, Leber Congenital; Amaurosis, Leber Congenital; Congenital Amauroses, Leber; Congenital Amaurosis, Leber; Leber Congenital Amauroses

Networked: 152 relevant articles (3 outcomes, 13 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Retinal Dystrophies
2.	Retinitis Pigmentosa (Pigmentary Retinopathy)
3.	Retinal Degeneration
4.	Macular Degeneration (Age-Related Maculopathy)
5.	Retinal Diseases

Experts

1.	Jacobson, Samuel G: 18 articles (01/2016 - 01/2003)
2.	Cideciyan, Artur V: 14 articles (01/2016 - 02/2004)
3.	Schwartz, Sharon B: 10 articles (01/2016 - 05/2007)
4.	Aleman, Tomas S: 9 articles (01/2011 - 02/2004)
5.	Sumaroka, Alexander: 8 articles (01/2016 - 05/2007)
6.	Roman, Alejandro J: 8 articles (01/2015 - 01/2007)
7.	Cremers, Frans P M: 8 articles (01/2015 - 09/2006)
8.	Koenekoop, Robert K: 8 articles (04/2013 - 04/2004)
9.	Stone, Edwin M: 8 articles (01/2013 - 05/2007)
10.	Hauswirth, William W: 7 articles (01/2015 - 03/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Leber Congenital Amaurosis:

1.	Retinaldehyde (Retinal)IBA 01/01/2016 - "Gene therapy clinical trials with gene augmentation therapy for Leber Congenital Amaurosis have shown partial reversal of retinal dysfunction. " 01/01/2015 - "The purpose of this study was to evaluate fixation location and oculomotor characteristics of 15 patients with Leber congenital amaurosis (LCA) caused by RPE65 mutations (RPE65-LCA) who underwent retinal gene therapy. " 04/01/2011 - "Studies have shown that cones degenerate in chromophore-deficient mouse models for Leber Congenital Amaurosis (LCA), but exogenous supplementation of the native 11-cis retinal chromophore can inhibit this degeneration, suggesting that 11-cis retinal could be used as a therapeutic agent for preserving functional cones in patients with LCA. " 01/01/2003 - "These results are promising for future clinical trials of human patients with retinal degenerative diseases, such as Leber congenital amaurosis, that result from RPE65 gene defects." 01/01/2016 - "Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes."
2.	Phosphotransferases (Kinase)IBA 03/13/2015 - "In contrast, substitutions in the kinase homology domain, W708R and I734T, linked to Leber congenital amaurosis prevented binding of both GCAP1-GFP and GCAP2-GFP. " 02/02/2010 - "In a striking manner, the equimolar binding of RetGC1 with GCAP1 in transfected HEK293 cells typical for wild-type RetGC1 was eliminated by a substitution, D639Y, in the kinase homology domain of RetGC1 found in a patient with a severe form of retinal dystrophy, Leber congenital amaurosis (LCA). "
3.	guanylate cyclase 1IBA 10/01/2011 - "Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency." 01/01/2015 - "Testing was performed with a three-alternative forced choice method in healthy subjects and patients with Leber congenital amaurosis (LCA) caused by mutations in GUCY2D, the gene that encodes retinal guanylate cyclase-1. "
4.	aryl hydrocarbon receptor-interacting proteinIBA 02/15/2014 - "Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to blinding diseases, including Leber congenital amaurosis (LCA) and cone dystrophy. " 01/01/2014 - "Mutations in Aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to Leber congenital amaurosis (LCA), a severe blinding disease that occurs in early childhood. " 11/12/2004 - "Mutations in the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) cause the blinding disease Leber congenital amaurosis (LCA). " 07/01/2004 - "To describe the phenotype of Leber congenital amaurosis (LCA) in 26 probands with mutations in aryl hydrocarbon receptor interacting protein-like 1 protein (AIPL1) and compare it with phenotypes of other LCA-related genes. " 05/01/2014 - "Mutations in the photoreceptor cell-specific gene encoding aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) lead to Leber congenital amaurosis (LCA4), retinitis pigmentosa, and cone-rod dystrophy. "
5.	Proteins (Proteins, Gene)IBA 01/01/2014 - "Mutations in the gene encoding RD3 resulting in unstable non-functional C-terminal truncated proteins are responsible for early onset photoreceptor degeneration in Leber Congenital Amaurosis 12 patients, the rd3 mice, and the rcd2 collies. " 07/01/2008 - "Leber congenital amaurosis: genes, proteins and disease mechanisms." 09/01/2007 - "Leber congenital amaurosis: ciliary proteins on the move." 10/15/2012 - "At least 21 genes that encode ciliary proteins are implicated in non-syndromic retinal dystrophies such as cone dystrophy, cone-rod dystrophy, Leber congenital amaurosis (LCA), macular degeneration or retinitis pigmentosa (RP). " 01/01/2015 - "The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium."
6.	Cone OpsinsIBA 05/24/2011 - "Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis." 06/01/2008 - "The Rpe65-/- mouse, used as a model for Leber congenital amaurosis, has slow rod degeneration and rapid cone loss, presumably because of the mistrafficking of cone opsins. " 06/01/2008 - "These data show that the Lrat-/- and Rpe65-/- mice are comparable models for studies of Leber congenital amaurosis and that the destructive cone opsin mistrafficking is caused by the lack of 11-cis retinal." 01/24/2003 - "Genomic DNA was isolated from blood samples obtained from 50 patients with Leber Congenital Amaurosis (LCA), 17 patients with the Enhanced S-Cone Syndrome (ESCS), and a patient with an atypical retinal degeneration that causes photoreceptor rosettes with blue cone opsin. "
7.	Carbon MonoxideIBA 03/01/2006 - "A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis." 01/01/2015 - "The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium." 01/01/2015 - "The aim of this study was to investigate the interaction and co-localization of novel interacting proteins with the Leber congenital amaurosis (LCA) associated protein aryl hydrocarbon receptor interacting protein-like 1 (AIPL1). "
8.	retinol dehydrogenaseIBA 07/01/2007 - "The purpose of this study was to determine the role of the retinol dehydrogenase 12 (RDH12) gene in patients affected with Leber congenital amaurosis (LCA), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant/recessive cone-rod dystrophies (CORD). " 01/01/2010 - "Mutations of the photoreceptor retinol dehydrogenase 12 (RDH12) gene cause the early onset retinal dystrophy Leber congenital amaurosis (LCA) by mechanisms not completely resolved. "
9.	Complementary DNA (cDNA)IBA 01/01/2014 - "Although this approach has been used successfully in clinical trials for Leber congenital amaurosis (LCA2), it remains a challenge for Usher 1B because of the large size of the MYO7A cDNA. "
10.	GalactosidasesIBA 01/01/2011 - "In this study, we investigated the expression of the gene encoding β-galactosidase (Glb)-1-like protein 3 (Glb1l3), a member of the glycosyl hydrolase 35 family, during retinal degeneration in the retinal pigment epithelium (RPE)-specific 65-kDa protein knockout (Rpe65(-/-)) mouse model of Leber congenital amaurosis (LCA). "

Therapies and Procedures

1.	Therapeutics 02/01/2008 - "The results from the forthcoming trials with AAV in the retina of patients with Leber Congenital Amaurosis will be critical for the rapid development of AAV-based therapeutics for retinal diseases." 03/01/2011 - "The positive results of pioneering clinical trials using gene therapy as treatment for patients with Leber congenital amaurosis (LCA) have ushered in a new era of molecular retinal therapeutics for LCA, other blinding retinal disorders and gene therapy applications. "
2.	Corneal Transplantation (Keratoplasty) 05/01/2000 - "Clinical history of a 17-year-old patient with Leber congenital amaurosis (LCA) with histologically proven recurrent keratoconus (KC) two years after corneal transplantation in one eye and a recurrence-like appearance with a more global contour on the other eye four years after corneal grafting is reported. "
3.	Vitrectomy 01/01/2013 - "To report the unique presentation of a patient with Leber congenital amaurosis who developed a tractional retinal detachment involving the macula and underwent successful pars plana vitrectomy surgery. "
4.	Transplantation (Transplant Recipients) 12/01/2010 - "Here, in proof-of-principle experiments, we demonstrate the feasibility of cone photoreceptor transplantation into the wild-type and degenerating retina of two genetic models of Leber congenital amaurosis, the Crb1(rd8/rd8) and Gucy2e(-/-) mouse. " 12/01/2010 - "Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells."
5.	Light Coagulation 05/01/2003 - "Leber congenital amaurosis like retinitis pigmentosa, can rarely be associated with neovascularization of the disk, which is amenable to treatment with peripheral photocoagulation if it does not spontaneously regress."