Evidence map›Paper›PMID 29780932›Full record

ArticleAmerican journal of ophthalmology case reports2018

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel

Bharesh K Chauhan, Anagha Medsinge, Matthew P Baumgartner, Hannah L Scanga, Smaragda Kamakari, Eva Gajdosova, Carlos J Camacho, Ken K Nischal

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of ophthalmology case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Clinical practice guideline for aniridia.Japanese journal of ophthalmology · 2026
    Article
  2. Article
  3. 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

8 authors.

Bharesh K ChauhanUPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Anagha MedsingeUPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Matthew P BaumgartnerDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, PA 15260, USA.
Hannah L ScangaUPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Smaragda KamakariOphthalmic Genetics Unit, OMMA, Ophthalmological Institute of Athens, Katehaki 74, 11525, Athens, Greece.
Eva GajdosovaGreat Ormond Street Hospital for Children, London, WC1N 3JH, UK.
Carlos J CamachoDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, PA 15260, USA.
Ken K NischalUPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo investigate the association between novel OBSERVATIONS: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female patients were diagnosed with bilateral APyC, intact irides and nystagmus. Genetic testing identified the three patients had novel missense mutations in CONCLUSIONS AND IMPORTANCE: This study demonstrates a novel phenotype of bilateral APyC, intact irides, and nystagmus in whom genetic testing for

Indexed as

Intact iridesNovel PAX6 missense mutationsNystagmusPyramidal cataracts

Identifiers

PMID29780932
PMCPMC5956696

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.