Evidence map›Paper›PMID 41323767›Full record

ArticleAmerican journal of ophthalmology case reports2025

One year follow up in siblings with TREX1-associated retinal vasculopathy with cerebral leukodystrophy.

Georgios Mylonas, Ioannna Dimakopoulou, Johannes Iby, Gabor Deak, Marlene Hollaus, Wolf Buehl, Reinhard Lehner, Markus Ritter, Guenther Weigert, Ursula Schmidt-Erfurth and 1 more

Abstract readCase Reports
In one paragraph

Article in American journal of ophthalmology case reports, 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

11 authors.

Georgios MylonasMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Ioannna DimakopoulouMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Johannes IbyMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Gabor DeakMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Marlene HollausMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Wolf BuehlMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Reinhard LehnerMedical University of Vienna, Center for Pathobiochemistry and Genetics, Austria.
Markus RitterMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Guenther WeigertMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Ursula Schmidt-ErfurthMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.
Stefan SacuMedical University of Vienna, Department of Ophthalmology and Optometry, Austria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To report macular vascular changes in two cases of retinal vasculopathy with cerebral leukodystrophy (RVCL). Observations: This report presents long-term follow-up findings in two sisters with RVCL, using conventional optical coherence tomography (OCT), widefield optical coherence tomography angiography (OCT-A), and ultra-widefield fluorescein angiography (UWF-FA). Ultra-widefield OCT angiography (UWF-OCT-A) was also employed during the most recent follow-up. Conclusions and importance: Several valuable monitoring tools, including UWF-FA and OCT-A, are essential for this rare disease. Ophthalmologists must be aware, as many RVCL patients first show isolated ocular findings detectable with OCT, and even earlier with UWF-OCT-A.

Indexed as

Retinal vasculopathy with cerebral leukodystrophyRVCLTREX1 geneUltra-widefield fluorescein angiographyUltra-widefield OCT angiography

Identifiers

PMID41323767
PMCPMC12657612

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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 OpenQuestion graph.