Leber Congenital Amaurosis (lca) - Biotechnology

Relevant Publications

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

Issue Release: 2024

Recent Advancements and Applications of Ophthalmic Gene Therapy Strategies: A Breakthrough in Ocular Therapeutics.

Issue Release: 2024

Clinical, Ophthalmic and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early Onset Severe Retinal Dystrophy.

Issue Release: 2024

A novel variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.

Issue Release: 2024

Clinical, Genetic and Histopathological Characteristics of CRX-associated Retinal Dystrophies.

Issue Release: 2024

Characteristics of Eyes with CRB1-associated EOSRD/LCA: Age-related changes.

Issue Release: 2024

Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3.

Issue Release: 2024

Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?

Issue Release: 2024

Bystander base editing interferes with visual function restoration in Leber congenital amaurosis.

Issue Release: 2024

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

Issue Release: 2024

Unlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of Leber congenital amaurosis.

Issue Release: 2024

CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut.

Issue Release: 2024

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Issue Release: 2024

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Issue Release: 2024

Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.

Issue Release: 2024

Screening for Autism Spectrum Disorder in children and adolescents with Leber\'s congenital amaurosis.

Issue Release: 2024

Clinical and mutational signatures of -associated retinopathies: a multicentre study.

Issue Release: 2024

Recombinant Adeno-Associated Virus as a Delivery Platform for Ocular Gene Therapy: A Comprehensive Review.

Issue Release: 2024

Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.

Issue Release: 2024

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.

Issue Release: 2024

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