Evidence map›Paper›PMID 39930177›Full record

ReviewAdvances in experimental medicine and biology2025

Genetic Landscape of Nonsyndromic Retinitis Pigmentosa in Portugal.

Oluji Chukwunalu, António Francisco Ambrósio, Ana Luísa Carvalho, Peter M J Quinn, João Pedro Marques, C Henrique Alves

Abstract readReview
PubMed Publisher
In one paragraph

Review in Advances in experimental medicine and biology, 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. Multifaceted disruption of AMPA receptor signaling byComputational and structural biotechnology journal · 2025
    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

6 authors.

Oluji ChukwunaluUniv Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Coimbra, Portugal.
António Francisco AmbrósioUniv Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Coimbra, Portugal.
Ana Luísa CarvalhoClinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
Peter M J QuinnDepartment of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
João Pedro MarquesOphthalmology Unit, Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal.
C Henrique AlvesUniv Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Coimbra, Portugal. chalves@fmed.uc.pt.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited retinal degenerations (IRDs) comprise a heterogeneous group of disorders that cause severe vision loss or even blindness. With an estimated prevalence of 1:4000, Retinitis Pigmentosa (RP) is the most prevalent IRD. RP is characterized by progressive centripetal degeneration of rods, followed by degeneration of cone photoreceptors. Clinically, RP presents with nyctalopia of variable age of onset and progressive narrowing of the peripheral visual field. Most patients eventually experience some degree of central vision loss, leading to legal blindness. We have evaluated the most common RP-causing genes in a Portuguese IRD registry (IRD-PT, www.retina.com.pt ).

Indexed as

Retinitis PigmentosaGenetic Predisposition to DiseaseHumansMutationPortugalRegistriesEyes shut homologInherited Retinal DystrophiesRetinitis PigmentosaRetinitis Pigmentosa GTPase RegulatorRetinoid isomerohydrolase RPE65RhodopsinUsherin

Identifiers

PMID39930177

What OpenQuestion 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 OpenQuestion graph.