Evidence map›Paper›PMID 37963665›Full record

ArticleBMJ case reports2023

Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis.

João Ponces Ramalhão, Miguel Afonso, Mafalda Macedo, Maria Araújo

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

Article in BMJ case reports, 2023. 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
0.3field-weighted citation impact, top 37% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

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

4 authors at 1 institution in 1 country.

João Ponces RamalhãoDepartamento de Oftalmologia, Centro Hospitalar Universitário de Santo António, Porto, Portugal jramalhao@campus.ul.pt.ORCID http://orcid.org/0000-0001-8281-2333
Miguel AfonsoDepartamento de Oftalmologia, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
Mafalda MacedoDepartamento de Oftalmologia, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
Maria AraújoDepartamento de Oftalmologia, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
Hospital de Santo António · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A female patient in her 20s presented to a routine ophthalmology appointment. Medical history was unremarkable. Family history was notable for intestinal cancer of a second-degree relative, diagnosed in her late 60s. Fundus examination revealed bilateral, multiple, flat, oval, pigmented lesions with an irregular halo of atrophy. The patient was diagnosed with atypical congenital hypertrophy of retinal pigmented epithelium. Investigation of extraocular associations was performed, including upper and lower endoscopy, which revealed 500-1000 colonic polyps with a maximum size 25 mm. Pathology did not reveal submucosal invasion. Genetic testing detected an adenomatous polyposis coli mutation (heterozygotic variant c.3183_3187delACAAA p.(Gln1062*)).

Indexed as

Adenomatous Polyposis ColiRetinal Pigment EpitheliumFemaleFundus OculiGenetic TestingHumansHypertrophyColon cancerGastroenterologyOphthalmologyRetina

Identifiers

PMID37963665
PMCPMC10649494
OpenAlexW4388673772

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.