Evidence map›Paper›PMID 40895869›Full record

ArticleCureus2025

Retinitis Pigmentosa in a Patient With a Homozygous Mutation in the RBP3 Gene: A Case Report.

Angel Aguayo-Merly, Natalio J Izquierdo

Abstract readCase Reports
In one paragraph

Article in Cureus, 2025. 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

2 authors.

Angel Aguayo-MerlyDepartment of Ophthalmology, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI.
Natalio J IzquierdoDepartment of Surgery, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive degeneration of the retina, leading to vision impairment. This report presents the case of a 56-year-old female patient with advanced RP caused by a homozygous genetic alteration affecting the RBP3 gene, specifically the c.802 A>T (p.Lys268*) variant. Our patient exhibited classic symptoms of night blindness, bilateral progressive vision loss, and a family history of similar symptoms. Ophthalmic evaluation, including optical coherence tomography (OCT), visual field testing, electroretinography (ERG), fluorescein angiography (FA), and genetic analysis, confirmed the diagnosis of advanced RP. Genetic testing identified the pathogenic homozygous mutation in the RBP3 gene, which, to our knowledge, has not been previously reported in the literature. This case highlights the importance of genetic testing in diagnosing retinal dystrophies, as well as the need for further studies to explore the full spectrum of RBP3-related retinal conditions.

Indexed as

genetic mutation analysishomozygous pathogenic variantrbp3 generetinal degenerationretinitis pigmentosa (rp)

Identifiers

PMID40895869
PMCPMC12393309

What Socratic holds

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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 Socratic graph.