Evidence map›Paper›PMID 42650171›Full record

ArticleGenes2026

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Deirdre Harford, Marcus Conway, Bridget Moran, Julia Zhu, Jacqueline Turner, Adrian Dockery, James J O'Byrne, D Ian Flitcroft, Tomás Burke, Kirk A J Stephenson and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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

12 authors.

Deirdre HarfordClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.
Marcus ConwayClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.
Bridget MoranClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.
Julia ZhuClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.ORCID 0000-0001-6769-0577
Jacqueline TurnerClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.
Adrian DockeryNext Generation Sequencing Laboratory, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.ORCID 0000-0002-3423-2542
James J O'ByrneClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.
D Ian FlitcroftClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.ORCID 0000-0002-7004-6026
Tomás BurkeClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.
Kirk A J StephensonChildren's Health Ireland at Temple Street Hospital, D01 XD99 Dublin, Ireland.ORCID 0000-0002-7462-7725
G Jane FarrarSmurfit Institute of Genetics, Trinity College Dublin, D02 PN40 Dublin, Ireland.
David J KeeganClinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Eccles Street, D07 R2WY Dublin, Ireland.

Funding

Fighting Blindness FB16FAR, FB18CRE, FB20DOCHealth Research Board POR/2010/97Health Research Charities Ireland HRCI-HRB-2020-007; MRCG-2013-8, MRCG-2016-14Science Foundation Ireland 16/1A/4452
6 · The paper itself

Abstract

BACKGROUND/

objectivesTo describe the genetic resolution rate, molecular findings, and genotype-phenotype correlations of non-

methodsRetrospective review of individuals with a clinical diagnosis of macular or cone dystrophy. Comprehensive phenotyping (dilated ocular biomicroscopy, multimodal retinal imaging, visual electrophysiology) and genetic testing (panel-based next-generation sequencing, single-gene testing, whole exome/genome sequencing, WES/WGS). Variants were interpreted using ACMG AMP criteria, and genotype-phenotype match was confirmed through multidisciplinary review.

results232 patients with macular/cone dystrophies were identified.

conclusionsGenetic resolution rates for rare IMDs remain lower than pan-retinal IRD phenotypes. Beyond

Indexed as

Macular DegenerationAdultATP-Binding Cassette TransportersBestrophinsChildEye Diseases, HereditaryFemaleGenetic Association StudiesGenetic Diseases, X-LinkedGenetic TestingHumansMaleMiddle AgedMyopiaNight BlindnessPeripherinsABCA4 protein, humanATP-Binding Cassette TransportersBEST1 protein, humanBestrophinsPeripherinsPRPH2 protein, humandeep phenotypinginherited eye diseasemacular dystrophymissing heritabilityophthalmic geneticsophthalmology

Identifiers

PMID42650171
PMCPMC13512636

What Socratic holds

Textmetadata
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.