Evidence map›Paper›PMID 40012800›Full record

ArticleJournal of current ophthalmology

Unveiling a

Fatemeh Azimi, Golnaz Khakpour, Ahad Sedaghat, Fatemeh Mostafaiee, Hengameh Kasraei, Masood Naseripour

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of current ophthalmology. 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. Revealing a HeterozygousJournal of current ophthalmology
    Article
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

6 authors.

Fatemeh AzimiEye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.
Golnaz KhakpourEye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.
Ahad SedaghatEye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.
Fatemeh MostafaieeDepartment of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Hengameh KasraeiEye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.
Masood NaseripourEye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To identify the potential genetic factors responsible for retinal capillary hemangioblastoma (RCH) and Type II granular corneal dystrophy (GCDII), with autosomal dominant inheritance. We used whole-exome sequencing (WES) in an Iranian family to identify the possible genetic etiology of RCH and GCDII with other manifestations of von Hippel-Lindau (VHL) disease. Methods: This study included one Iranian family for WES in index patients and Sanger sequencing in all available individuals. Results: Clinical presentations of these patients included RCH, GCD, central nervous system hemangioblastoma as well as pancreatic cyst. WES disclosed a heterozygous known pathogenic variant c.371G>A (p.R124H) in exon 4 of gene Conclusions: For the first time, our research identified the potential involvement of

Indexed as

Granular corneal dystrophyRetinal capillary hemangioblastomaVon Hippel–LindauWhole-exome sequencing

Identifiers

PMID40012800
PMCPMC11856112

What OpenQuestion holds

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LicenceCC BY-NC-SA
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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.