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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: Feb 05, 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: Dec 17, 2019

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 135 free, full-text research articles. First few results:
Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.
Last Updated: Dec 17, 2019

To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for functional improvement.

Seven novel variants expand the spectrum of related Leber congenital amaurosis in the Chinese population.
Last Updated: Aug 29, 2019

To screen in 187 families with Leber congenital amaurosis (LCA).

Rescue of cone function in cone-only knockout mouse model with Leber congenital amaurosis phenotype.
Last Updated: May 30, 2019

Recessive mutations in the human gene are associated with Senior-L√łken syndrome (SLS), a ciliopathy presenting with nephronophthisis and Leber congenital amaurosis (LCA). -knockout mice develop LCA without nephronophthisis. Mutant rods rapidly degenerate while mutant cones survive ...

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135 Free Research Articles 256 Research Articles