Evidence map›Paper›PMID 41972860›Full record

ArticleInvestigative ophthalmology & visual science2026

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

Sapir Shalom, Libe Gradstein, Eran Pras, Johanna Valensi, Ohad S Birk, Anat Blumenfeld, Avital Eilat, Michal Macarov, Tomer Poleg, Frans P M Cremers and 8 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Investigative ophthalmology & visual science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Sapir ShalomDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.
Libe GradsteinDepartment of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University, Beer Sheva, Israel.
Eran PrasDepartment of ophthalmology, Shamir Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Johanna ValensiDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.
Ohad S BirkThe Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.
Anat BlumenfeldDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.
Avital EilatDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.
Michal MacarovDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.
Tomer PolegThe Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Daan M PannemanDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Nadin HollanderThe "Lirot" Association, Tel Aviv, Israel.
Nitza Goldenberg-CohenDepartment of Ophthalmology, Bnai-Zion Medical Center, Haifa, Israel.
Claudia YahalomDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.
Eyal BaninDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.
Tamar Ben-YosefRuth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Dror SharonDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 recruited by five genetic centers, and eight ophthalmic centers, located throughout the country, and belonging to the Israeli inherited retinal disease consortium (IIRDC). The information regarding the cause of disease in each solved family was tabulated. For each ethnic group, we listed the causing variants and their frequencies. Results: We identified a total of 1062 disease-causing variants in Israeli patients with IRDs from 20 ethnic groups (13 of which are Jewish), with a total of 4,728 familial pathogenic alleles. Founder variants contributed the largest proportion of alleles in Yemenite Jews (75%), followed by Turkish Jews (67%), and North African Jews (66%). The most common disease-causing variant was ABCA4-c.5882G>A, a pan-ethnic variant, followed by FAM161A-c.1355_1356del, a founder variant in multiple Jewish ethnic groups. By performing haplotype analysis, 21 additional founder variants were identified. We generated a searchable online database (https://www.eyes.org.il/genecal) based on this data depicting the most common variants for each ethnic group and IRD. Conclusions: Our analysis provides a comprehensive list of common and founder variants for each ethnic group in Israel and is likely to allow more accurate and informative genetic counseling for Israeli families with IRDs.

Indexed as

Ethnic and Racial MinoritiesMutationRetinal DiseasesFemaleGene FrequencyGenetic Predisposition to DiseaseHumansIsraelJewsMalePedigree

Identifiers

PMID41972860
PMCPMC13089656

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