ReviewJournal of paediatrics and child health2025
A Practical Guide to Genetic Eye Conditions for Paediatricians.
Review in Journal of paediatrics and child health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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.
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.
Who cites it
1 citing paper in PubMed.
- A Practical Guide to Genetic Eye Conditions for Paediatricians.Journal of paediatrics and child health · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionInherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders. Paediatricians are well placed to recognise ocular disorders and syndromic associations, and help facilitate appropriate investigations and referrals, including genetic testing. Timely recognition of these conditions may allow patients to capitalise on the recent advances in ocular genetic therapy and clinical trials which are progressing for both non-syndromic and syndromic ocular conditions.
aimsThis review provides a practical guide for paediatricians on recognising genetic eye conditions in children, initiating appropriate investigations, and referring for genetic testing.
methodsAn overview of the most common Mendelian paediatric eye conditions and their syndromic associations is provided, encompassing disorders which affect the anterior and/or posterior segments. A suggested framework including a flowchart for recognising potentially inherited ocular conditions and recognising syndromic diagnoses is included. Finally, a discussion regarding the utility of a genetic diagnosis, including information about inheritance, genetic counselling, and current gene therapy and clinical trials is provided.
conclusionGenetic eye conditions are an important cause of ocular morbidity in children. These conditions may be isolated to the eye or have multisystem syndromic associations. Additionally, in an era where genetic testing is increasingly being mainstreamed and given the availability of gene therapy, it is relevant for paediatricians to be familiar with genetic eye conditions. This review provides a practical approach for paediatricians to help navigate these conditions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.