Evidence map›Paper›PMID 40229141›Full record

ArticleClinical genetics2025

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.

Johanna L Jones, Daisy Boardman, Khine Nweni, Franoli Edo, Isabelly M Barros de Lima, Pakdhipat Lertsinpakdee, Soe Hlaing, Robert Casson, Ashwin Mallipatna, Ye Win and 7 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

17 authors.

Johanna L JonesMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Daisy BoardmanMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Khine NweniYangon Eye Hospital, Yangon, Myanmar.
Franoli EdoMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Isabelly M Barros de LimaMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Pakdhipat LertsinpakdeeMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Soe HlaingYangon Eye Hospital, Yangon, Myanmar.
Robert CassonDepartment of Ophthalmology, Royal Adelaide Hospital and University of Adelaide, Adelaide, South Australia, Australia.
Ashwin MallipatnaDepartment of Ophthalmology, Royal Adelaide Hospital and University of Adelaide, Adelaide, South Australia, Australia.
Ye WinYangon Eye Hospital, Yangon, Myanmar.
Bennet McComishMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Naing LinNorth Okkalapa General and Teaching Hospital, Yangon, Myanmar.
James MueckeDepartment of Ophthalmology, Royal Adelaide Hospital and University of Adelaide, Adelaide, South Australia, Australia.
Andy GriffithsSight for All, Adelaide, South Australia, Australia.
Martin HolmesSight for All, Adelaide, South Australia, Australia.
Than Htun AungYangon Eye Hospital, Yangon, Myanmar.
Kathryn P BurdonMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.

Funding

National Health and Medical Research Council GNT1185477
6 · The paper itself

Abstract

Genetic testing for paediatric cataract detects a cause in 50%-70% of affected children but is as low as 20% in some reports. We screened 180 cataract-related genes in 22 children (from 20 families) with paediatric cataract from Myanmar using whole-exome sequencing. Pathogenic or likely pathogenic variants were identified in 45% (9/20) of probands in genes MIP, COL2A1, NHS, GJA8, GJA3, CRYGC, CRYBB2, PAX6 and SLC7A8. Variants of uncertain significance likely to be important were identified in three children for a maximum diagnostic rate of 12/20 probands (60%) comparable to other reports. This is the first study to examine the genetics of paediatric cataract in Myanmar.

Indexed as

CataractGenetic Predisposition to DiseaseGenetic VariationChildChild, PreschoolExome SequencingFemaleGenetic TestingHumansInfantMaleMutationMyanmarcongenital cataractgenetic testingrare diseasessplice assayvariant classification

Identifiers

PMID40229141
PMCPMC12405064

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.