Evidence map›Paper›PMID 32204707›Full record

ArticleBMC ophthalmology2020

Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.

Ye Elaine Wang, Dhariana Acon Ramirez, Ta Chen Chang, Audina Berrocal

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 48% of its field
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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. A mutation inMolecular vision · 2020
    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

4 authors at 1 institution in 1 country.

Ye Elaine WangBascom Palmer Eye Institute, University of Miami, 900 NW 17th St, Miami, FL, 33136, USA.
Dhariana Acon RamirezBascom Palmer Eye Institute, University of Miami, 900 NW 17th St, Miami, FL, 33136, USA.
Ta Chen ChangBascom Palmer Eye Institute, University of Miami, 900 NW 17th St, Miami, FL, 33136, USA.
Audina BerrocalBascom Palmer Eye Institute, University of Miami, 900 NW 17th St, Miami, FL, 33136, USA. ABerrocal@med.miami.edu.
University of Miami · US

Funding

University of Miami Institute for Advanced Study of the Americas Pilot Award
6 · The paper itself

Abstract

backgroundPeters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities. It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations. Ocular findings consist predominantly anterior segment abnormalities without posterior segment involvement. CASE PRESENTATION: In this presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented with classic anterior segment findings, systemic abnormalities, as well as atypical bilateral chorioretinal atrophy. The chorioretinal findings were characterized with spectral-domain optical coherence tomography.

conclusionsOur report expands the phenotypic descriptions of PPS by characterizing posterior segment findings.

Indexed as

Anterior Eye SegmentChoroid DiseasesCleft LipCorneaEye AbnormalitiesFluorescein AngiographyGalactosyltransferasesGlucosyltransferasesGrowth DisordersHumansInfantLimb Deformities, CongenitalMaleMutationRetinal DiseasesTomography, Optical CoherenceB3GLCT protein, humanGalactosyltransferasesGlucosyltransferasesAnterior segment dysgenesisAtrophic chorioretinal lesionsB3GLCT mutationPeters anomalyPeters plus syndrome

Identifiers

PMID32204707
PMCPMC7092513
OpenAlexW3012814973

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.