Evidence map›Paper›PMID 41868570›Full record

ReviewClinical ophthalmology (Auckland, N.Z.)2026

Candidate Genes for Non-Syndromic Pediatric Cataracts.

Jennifer L Rossen, Andy Drackley, Allison Goetsch Weisman, Alexander Ing, Brenda L Bohnsack

Abstract readReview
In one paragraph

Review in Clinical ophthalmology (Auckland, N.Z.), 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
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

5 authors.

Jennifer L RossenDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Andy DrackleyCenter for Genomics Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Allison Goetsch WeismanDepartment of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Alexander IngCenter for Genomics Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Brenda L BohnsackDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Pediatric cataracts are a significant cause of vision loss in children and may present in isolation or in association with other ocular or systemic diseases. Despite advances in molecular diagnostics, the underlying etiology of cataracts in most patients remains unknown, even in the setting of a positive family history. Genetic testing for pediatric cataracts is neither standardized nor widely utilized. Lack of standardization is multifold, including limited published clinical and experimental reports and the absence of a comprehensive list of candidate genes with grading of the strength of gene-disease relationships. Areas Covered: The purpose of this review is to provide a comprehensive list of the 81 candidate genes potentially associated with non-syndromic pediatric cataracts and the accompanying case-based and experimental literature support in order to start the process of developing a standardized approach to genetic testing. Inheritance patterns, other associated ocular findings, and proposed mechanisms of pathogenesis will be described for the candidate genes. Genes that are associated with two distinct phenotypes, one syndromic and one characterized by non-syndromic cataracts, will also be presented. The types of cataracts and age of onset are often highly variable at both the gene and variant level, so they will not be the focus of this review, but are of interest for future studies. Future Work: Future work is needed to formalize a standardized list of established and candidate genes for non-syndromic pediatric cataracts and to systematically grade our confidence in the gene-disease relationships through the ClinGen framework. An improvement in genetic testing for pediatric cataracts will improve clinical care of these patients and their families regarding prognostication, personalized medical management, and clarification of recurrence risk for reproductive decision making. Further, a better understanding of the pathogenesis of pediatric cataracts can lead to targets for novel treatment development.

Indexed as

congenital cataractsinherited eye diseasesisolated cataractsocular geneticspediatric cataracts

Identifiers

PMID41868570
PMCPMC13005587

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