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Leber congenital amaurosis

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Leber congenital amaurosis" returned 7 free, full-text review articles. First few results:
Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects.
Last Updated: Mar 09, 2020

Leber congenital amaurosis (LCA) caused by AIPL1 mutations is one of the most severe forms of inherited retinal degeneration (IRD). The rapid and extensive photoreceptor degeneration challenges the development of potential treatments. Nevertheless, preclinical studies show that both ...

Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.
Last Updated: Feb 20, 2020

Retinal dystrophies are one of the leading causes of pediatric congenital blindness. Leber's congenital amaurosis (LCA) encompasses one of the most severe forms of inherited retinal dystrophy responsible for early-onset childhood blindness in infancy. These are clinically characterized ...

CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
Last Updated: Feb 25, 2020

LLeber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell ...

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7 Free Review Articles 32 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Leber congenital amaurosis" returned 0 free, full-text editorial articles. First 0 results:
Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
Last Updated: Nov 19, 2009

Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) continues to provide its challenges and dilemmas. Until recently, seven genes have been identified that cause LCA. Clarifying the relation between LCA and associated neurological ...

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0 Free Editorials 3 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Leber congenital amaurosis" returned 140 free, full-text research articles. First few results:
The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.
Last Updated: Jul 10, 2020

Leber congenital amaurosis (LCA) is a group of severe congenital retinal diseases. Variants in the guanylate cyclase 2D gene (GUCY2D), which encodes guanylate cyclase 1 (ROS-GC1), are associated with LCA1 and account for 6%-21% of all LCA cases. In this study, one family with LCA1 ...

Pathogenicity Reclasssification of Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Last Updated: May 12, 2020

A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of new variants is important for the conclusion of molecular diagnosis and the medical management of patient treatments. The purpose ...

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
Last Updated: May 01, 2020

To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in preparation for trials of novel therapies.

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140 Free Research Articles 265 Research Articles