Evidence map›Paper›PMID 40168954›Full record

ArticleOphthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde2025

Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.

Nastasia Foa, Maximilian Pfau, Georg Ansari, Giuseppe Cancian, Gabriela Grimaldi, Samuel Koller, Wolfgang Berger, Pascal Escher, Lucas Janeschitz-Kriegl, Carlo Rivolta and 2 more

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In one paragraph

Article in Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde, 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. Article
  2. 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

12 authors.

Nastasia FoaClinic of Ophthalmology, Institute of Clinical Neurosciences of Southern Switzerland (INSI), Ente Ospedaliero Cantonale (EOC), Lugano, Switzerland, foa.nastasia@gmail.com.
Maximilian PfauDepartment of Ophthalmology, University Hospital Basel (USB), Basel, Switzerland.
Georg AnsariDepartment of Ophthalmology, University Hospital Basel (USB), Basel, Switzerland.
Giuseppe CancianClinic of Ophthalmology, Institute of Clinical Neurosciences of Southern Switzerland (INSI), Ente Ospedaliero Cantonale (EOC), Lugano, Switzerland.
Gabriela GrimaldiClinic of Ophthalmology, Institute of Clinical Neurosciences of Southern Switzerland (INSI), Ente Ospedaliero Cantonale (EOC), Lugano, Switzerland.
Samuel KollerInstitute of Medical Molecular Genetics, University of Zurich (UZH), Schlieren, Switzerland.
Wolfgang BergerInstitute of Medical Molecular Genetics, University of Zurich (UZH), Schlieren, Switzerland.
Pascal EscherDepartment of Ophthalmology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Lucas Janeschitz-KrieglDepartment of Ophthalmology, University Hospital Basel (USB), Basel, Switzerland.
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.
Hendrik P N SchollDepartment of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.
Moreno MenghiniClinic of Ophthalmology, Institute of Clinical Neurosciences of Southern Switzerland (INSI), Ente Ospedaliero Cantonale (EOC), Lugano, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThe aim of the study was to report the phenotype and progression pattern of RP1 retinitis pigmentosa carrying the variant c.2613dupA (p.Arg872Thrfs*2).

methodsThis is a retrospective cohort study from 13 families with confirmed RP1 c.2613dupA (p.Arg872Thrfs*2) variant. Analysis was performed on clinical data including multimodal imaging and visual function tests. Progression rate (PR) was defined as the length of ellipsoid zone (EZ) lost per year and was calculated for all patients. Linear mixed model to predict the diameter of EZ loss as a function of age was applied.

resultsTwenty-one patients were included in the study. EZ loss in all patients ranged from 3.8 to 576.0 µm/year (median PR 76.5, IQR 97.6) in right eyes and from 26.6 to 340.7 µm/year (median PR 96.6, IQR 70.3), in left eyes, respectively, with a linear slope of progression for both eyes. The linear mixed model using age as an explanatory variable explained 25% of the variability in PR and showed that male patients had on average a statistically significant smaller EZ diameter at baseline.

conclusionThe rate of progression of RP1 as measured by loss of EZ appears to be linear, independent of the age of onset. Furthermore, it appears that male subjects may present with earlier onset of disease as they showed a statistically significant smaller EZ diameter at baseline. Monitoring of EZ loss could be a valid clinical surrogate marker for clinical trials, but possibly sex differences and high variability of phenotypes need to be considered.

Indexed as

DNAEye ProteinsMutationRetinitis PigmentosaTomography, Optical CoherenceVisual AcuityAdolescentAdultAgedDisease ProgressionDNA Mutational AnalysisElectroretinographyFemaleFluorescein AngiographyFollow-Up StudiesFundus OculiDNAEye ProteinsMicrotubule-Associated ProteinsRP1 protein, humanCone-rod dystrophyEllipsoid zone lossGenotype-phenotype correlationInherited retinal diseasePhenotype variabilityRetinitis pigmentosaRP1 gene

Identifiers

PMID40168954
PMCPMC12101799

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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.