Article

The Genetic Landscape and Epidemiological Characteristics of Inherited Retinal Diseases in the Chinese Population

2026-05-29

Abstract excerpt

<h4>Background</h4> Inherited Retinal Diseases (IRDs) are a group of genetically heterogeneous blinding conditions. Major global genomic reference databases are disproportionately enriched for individuals of European ancestry. This underrepresentation creates a significant bias that impedes the accuracy of genetic diagnosis in the Chinese population. This study aims to address this limitation by constructing a co...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f47c2039-1c61-5ac3-ac2c-7657c1f2c673
DOI: 10.64898/2026.05.27.26354224

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Genetic Landscape and Epidemiological Characteristics of Inherited Retinal Diseases in the Chinese PopulationDOI 10.64898/2026.05.27.26354224Read

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Semantic proximity Read

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.Semantic proximity Read

Pathogenicity Reassessment and Novel Variant Discovery in Inherited Retinal Disease through Population-Scale Genomics in the United Arab EmiratesSemantic proximity Read

Genomic landscape of inherited retinal diseases for gene therapy and clinical trials in ArgentinaSemantic proximity Read

Highly efficient capture approach for the identification of diverse inherited retinal disordersSemantic proximity Read

Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.Semantic proximity Read

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal GenesSemantic proximity Read

Genetic characteristics and epidemiology of inherited retinal degeneration in TaiwanSemantic proximity Read

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.Semantic proximity Read

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Semantic proximity Read

Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophiesSemantic proximity Read

Expanding the genotype-phenotype correlations and mutational spectrum in inherited retinal diseases: novel and recurrent mutationsSemantic proximity Read