Evidence map›Paper›PMID 42762012›Full record

ArticleCase reports in ophthalmology

A Rare Septuagenarian Patient with a Mild Form of Mucopolysaccharidosis Type IIIC with Ocular Manifestations: A Case Report.

Amber Alzufari, Dania A Rahal, Gerald Schaefer, Sami H Uwaydat

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PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in ophthalmology. 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

4 authors.

Amber AlzufariHarvey and Bernice Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Dania A RahalHarvey and Bernice Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Gerald SchaeferUniversity of Arkansas for Medical Sciences, Little Rock, AR, USA.
Sami H UwaydatHarvey and Bernice Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: We present an atypical case of mucopolysaccharidosis (MPS) type IIIC to contribute to the growing understanding of its clinical heterogeneity and expand the known phenotypic spectrum of the disorder. This report describes one of the oldest known patients with genetically confirmed MPS IIIC. Case presentation: The patient received genetic testing in her seventies, revealing variations in the Conclusion: This presentation broadens the recognized clinical spectrum of MPS IIIC and may facilitate earlier diagnosis in adults with similar, seemingly idiopathic findings. Improved recognition of such atypical cases may support timely genetic testing and potential therapeutic options.

Indexed as

AgingCase reportsEye diseaseGeneticsOphthalmologyRetinal degeneration

Identifiers

PMID42762012
PMCPMC13588611

What OpenQuestion 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 OpenQuestion graph.