Evidence map›Paper›PMID 41153457›Full record

ArticleGenes2025

Mutation of the Thyroid Hormone Receptor Beta Gene (

Elisa A Mahler, Lars C Moeller, Katharina Wall, Marlene Saßmannshausen, Bettina Kron, Hanno J Bolz, Frank G Holz, Philipp Herrmann

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. medRxiv : the preprint server for health sciences · 2026
    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

8 authors.

Elisa A MahlerDepartment of Ophthalmology, University Hospital Bonn, 53127 Bonn, Germany.
Lars C MoellerDepartment of Endocrinology, Diabetes and Metabolism, Division of Laboratory Research, University Hospital Essen, 45147 Essen, Germany.ORCID 0000-0002-9330-9036
Katharina WallDepartment of Ophthalmology, University Hospital Bonn, 53127 Bonn, Germany.ORCID 0000-0003-3420-0054
Marlene SaßmannshausenDepartment of Ophthalmology, University Hospital Bonn, 53127 Bonn, Germany.ORCID 0000-0001-5265-4645
Bettina KronBioscientia Human Genetics, Institute for Medical Diagnostics GmbH, 55218 Ingelheim, Germany.
Hanno J BolzBioscientia Human Genetics, Institute for Medical Diagnostics GmbH, 55218 Ingelheim, Germany.
Frank G HolzDepartment of Ophthalmology, University Hospital Bonn, 53127 Bonn, Germany.
Philipp HerrmannDepartment of Ophthalmology, University Hospital Bonn, 53127 Bonn, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesHerein, we report the clinical cases of two affected first-degree relatives from a family with highly variable macular dystrophy, expanding the known phenotype spectrum with mutations in the thyroid hormone receptor beta gene (

methodsMultimodal retinal imaging included wide-field fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) imaging, performed alongside functional testing (visual fields, electroretinogram (ERG)), metabolic blood analyses, and genetic testing of both cases.

resultsA 67-year-old female patient presenting with reading difficulties and visual impairment since childhood was referred for evaluation and counseling for potential treatment options. Extensive ophthalmologic examination, including multimodal retinal imaging and functional testing, revealed an occult macular dystrophy. Her 39-year-old son reported similar visual symptoms in combination with mild photophobia. In multimodal retinal imaging, he also showed a macular dystrophy but with a vitelliform phenotype. Genetic testing identified the heterozygous pathogenic variant c.283+1G>A in the thyroid hormone receptor beta gene (

conclusionsThis report shows a high intrafamilial variability of macular dystrophy caused by a heterozygous

Indexed as

MutationThyroid Hormone Receptors betaVitelliform Macular DystrophyAdultAgedFemaleHumansMalePedigreePhenotypeTomography, Optical CoherenceThyroid Hormone Receptors betainherited retinal dystrophies (IRD)interfamily variabilitymacular dystrophyphenotype expansionphenotype–genotype correlationthyroid hormone receptor beta gene (THRB)

Identifiers

PMID41153457
PMCPMC12564572

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Registered trials

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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.