Evidence map›Paper›PMID 41041027›Full record

ArticleJournal of current ophthalmology

Revealing a Heterozygous

Fatemeh Azimi, Golnaz Khakpour, Ahad Sedaghat, Fatemeh Mostafaiee, Reza Mirshahi, 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. 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

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.
Reza MirshahiEye 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 report a rare case of uveal melanoma (UM) and Von Hippel-Lindau (VHL) syndrome in a patient who underwent whole exome sequencing (WES) to identify the possible genetic cause of the disease. Methods: A 54-year-old patient was referred to the eye clinic at the Rassoul Akram Hospital in 2016 due to complaints of blurry vision. In addition to UM, he later developed retinal capillary hemangioblastomas in his eye and a central nervous system hemangioblastoma. Proband had a family history of prostate cancer, breast cancer, skin cancer, and acute myeloid leukemia. After analyzing the Sanger sequencing and multiplex ligation-dependent probe amplification of the VHL genes, no mutations were found, leading to the decision to perform WES. Results: WES disclosed a heterozygous known pathogenic nonsense variant Conclusions: Our examination indicated that

Indexed as

Central nervous system hemangioblastomaRetinal capillary hemangioblastomaUveal melanomaWhole exome sequencing

Identifiers

PMID41041027
PMCPMC12487798

What OpenQuestion holds

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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.