Condition: Amaurosis congenita of Leber, type 1


rs1555635778 in GUCY2D gene and Amaurosis congenita of Leber, type 1 PMID 10636733 1999 A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.

PMID 15123990 2004 Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 11035546 2000 Mutational analysis and clinical correlation in Leber congenital amaurosis.

PMID 30319355 2018 Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.

PMID 9888789 1999 Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis.

PMID 27475985 2016 Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

PMID 12365911 2002 Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

PMID 8944027 1996 Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

PMID 16505055 2006 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

PMID 26626312 2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

PMID 20050595 2010 A similar effect was observed with another LCA-related mutation, R768W, in the same domain of RetGC1.

PMID 25477517 2015 Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.

PMID 26253563 2015 Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.

PMID 11328726 2001 Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

PMID 17964524 2007 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

rs1327062642 in TULP1 gene and Amaurosis congenita of Leber, type 1 PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.