Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.

Investigative ophthalmology & visual science - 1 Apr 2026

Shalom Sapir, Gradstein Libe, Pras Eran, Valensi Johanna, Birk Ohad S, Blumenfeld Anat, Eilat Avital, Macarov Michal, Poleg Tomer, Cremers Frans P M, Roosing Susanne, Panneman Daan M, Hollander Nadin, Goldenberg-Cohen Nitza, Yahalom Claudia, Banin Eyal, Ben-Yosef Tamar, Sharon Dror

Abstract excerpt

Purpose: Inherited retinal diseases (IRDs) are a group of more than 50 clinically and genetically heterogeneous diseases caused by variants in more than 300 genes. The Israeli population is composed of multiple ethnic groups with variable prevalence of IRD-causing variants. In the current study, we analyzed IRDs in different Israeli ethnic groups to establish the genetic landscape. Methods: Patients were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ABCA4 gene
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Israel

Share to Mutation

Share to Pedigree

Share to Retinal Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 41972860
DOI: 10.1167/iovs.67.4.24
PMCID: PMC13089656

Genes

ABCA4
FAM161A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.PMID 41972860Read ↗

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)Semantic proximity Read ↗

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.Semantic proximity Read ↗

Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.Semantic proximity Read ↗

Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genesSemantic proximity Read ↗

Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients.Semantic proximity Read ↗

Nationwide genetic analysis of more than 600 families with inherited eye diseases in ArgentinaSemantic proximity Read ↗

A systematic review of inherited retinal dystrophies in Pakistan: Updates from 1999 to April 2023Semantic proximity Read ↗

The genetic landscape of inherited retinal dystrophies in Arabs.Semantic proximity Read ↗

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

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

The Genetic Landscape and Epidemiological Characteristics of Inherited Retinal Diseases in the Chinese PopulationSemantic proximity Read ↗

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.