Evidence map›Paper›PMID 39202748›Full record

ReviewLife (Basel, Switzerland)2024

The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.

Marta Armentano, Ludovico Alisi, Francesca Giovannetti, Valeria Iannucci, Luca Lucchino, Alice Bruscolini, Alessandro Lambiase

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Life (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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.

Marta ArmentanoDepartment of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0009-0005-3414-6344
Ludovico AlisiDepartment of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0001-5366-882X
Francesca GiovannettiDepartment of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0002-7661-6675
Valeria IannucciDepartment of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0003-2374-7476
Luca LucchinoDepartment of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy.
Alice BruscoliniDepartment of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0002-1627-5493
Alessandro LambiaseDepartment of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0002-8974-991X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder caused by the deletion of the q11.2 band of chromosome 22. It may affect various systems, including the cardiovascular, immunological, gastrointestinal, endocrine, and neurocognitive systems. Additionally, several ocular manifestations have been described.

resultsWe report a case of a 34-year-old female diagnosed with 22q11.2DS who presented with visual discomfort and foreign body sensation in both eyes. She had no history of recurrent ocular pain. A comprehensive ophthalmological examination was performed, including anterior segment optical coherence tomography and in vivo confocal microscopy. Overall, the exams revealed bilateral corneal map-like lines, dots, and fingerprint patterns, consistent with a diagnosis of epithelial basement membrane dystrophy (EBMD). In addition to presenting with this novel corneal manifestation for 22q11.2 DS, we review the ocular clinical features of 22q11.2DS in the context of our case.

conclusionsThe EBMD may represent a new corneal manifestation associated with 22q11.2 syndrome, although the link between these conditions is unknown. Further research is warranted to investigate potentially shared genetic or molecular pathways to the understanding of the phenotypic variety observed among this rare syndrome.

Indexed as

22q11.2 deletion syndromeconfocal microscopyDiGeorge syndromemap-dot-fingerprint dystrophyocular rare diseases

Identifiers

PMID39202748
PMCPMC11355887

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.