Evidence map›Paper›PMID 38454848›Full record

ArticleOphthalmic genetics2024

Structural and functional characterization of an individual with the M285R

Thales A C de Guimaraes, Francesco Lai, Raffaella Colombatti, Giovanni Sato, Roberta Rizzo, Angelos Kalitzeos, Michel Michaelides

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmic genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 47% of its field
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

3 citing papers in PubMed, 1 citations in OpenAlex.

  1. Bayesian Population-Based Prevalence Estimation ofInternational journal of molecular sciences · 2026
    Article
  2. Topography of Photophobia: Perifoveal Sensitivity Associations in Glaucoma.Investigative ophthalmology & visual science · 2026
    Article
  3. Retinal Sensitivity in KCNV2-Associated Retinopathy.Investigative ophthalmology & visual science · 2025
    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

7 authors at 4 institutions in 2 countries.

Thales A C de GuimaraesUCL Institute of Ophthalmology, University College London, London, UK.
Francesco LaiUnit of Oncology and Molecular Pathology, Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy.
Raffaella ColombattiDepartment of Women's and Child's Health, University of Padova, Padova, Italy.
Giovanni SatoUnit of Low Vision Rehabilitation, Sant'Antonio Hospital, University of Padova, Padova, Italy.
Roberta RizzoUnit of Low Vision Rehabilitation, Sant'Antonio Hospital, University of Padova, Padova, Italy.
Angelos KalitzeosUCL Institute of Ophthalmology, University College London, London, UK.
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London, UK.
University College London · GBOspedale Sant Antonio · ITUniversity of Cagliari · ITUniversity of Padua · IT

Funding

Wellcome Trust
6 · The paper itself

Abstract

backgroundDisease-causing variants in the MATERIAL AND

methodsMedical history, genetic testing, ocular examination, high-resolution retinal imaging including adaptive optics scanning light ophthalmoscopy (AOSLO), and functional assessments.

resultsA 16-year-old male with mild cone-rod dystrophy presented with reduced central vision and photophobia. Genetic testing showed two variants in

conclusionsWe provide functional and structural evidence that the variant M285R is disease-causing if associated with a loss-of-function variant. To the best of our knowledge, this is the first hypomorphic allele reported in

Indexed as

AllelesElectroretinographyTomography, Optical CoherenceAdolescentCone-Rod DystrophiesHumansMaleOphthalmoscopyPotassium Channels, Voltage-GatedVisual AcuityKCNV2 protein, humanPotassium Channels, Voltage-Gatedadaptive opticsAOSLOcone dystrophycone-rod dystrophyhypomorphicinheritedKCNV2microperimetryVFMA

Identifiers

PMID38454848
PMCPMC11404858
OpenAlexW4392590761

What OpenQuestion 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 OpenQuestion graph.