Evidence map›Paper›PMID 32506993›Full record

ArticleOphthalmic genetics2020

Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.

Shaza N Al-Holou, Edward Siefker, Samiksha Fouzdar-Jain, Donny W Suh, William B Rizzo

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

Article in Ophthalmic genetics, 2020. 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
0.2field-weighted citation impact, top 51% 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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. 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

5 authors at 2 institutions in 1 country.

Shaza N Al-HolouStanley M. Truhlsen Eye Institute, University of Nebraska Medical Center , Omaha, NE, USA.ORCID 0000-0003-3978-7253
Edward SiefkerDepartment of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center , Omaha, NE, USA.
Samiksha Fouzdar-JainStanley M. Truhlsen Eye Institute, University of Nebraska Medical Center , Omaha, NE, USA.
Donny W SuhStanley M. Truhlsen Eye Institute, University of Nebraska Medical Center , Omaha, NE, USA.
William B RizzoDepartment of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center , Omaha, NE, USA.
Children's Hospital & Medical Center · USUniversity of Nebraska Medical Center · US

Funding

Sterol and Isoprenoid Diseases Consortium Supplement 2018U54HD061939 · NICHD · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI BOERKOEL, CORNELIUS F · 2009 to 2018
$6.6M
NICHD NIH HHS U54 HD061939
6 · The paper itself

Abstract

backgroundSjögren-Larsson syndrome (SLS) is a rare genetic neurocutaneous disease caused by mutations in MATERIALS AND

methodsSerial retinal photographs of 4 SLS subjects (9-23 years old) were taken over a period of 1-3 years. Images were compared by visual inspection and analyzed using ImageJ/Fiji software to observe changes.

resultsVisual inspection of retinal photographs of SLS subjects taken over time demonstrated distinctive changes in crystalline inclusions. New inclusions were formed and some established inclusions regressed. These changes were conveniently demonstrated with software-based photographic image analysis.

conclusionsWe conclude that macular inclusions in SLS are not simply inert deposits, but are dynamic structures that form over time and are subject to remodeling. This conclusion provides new insight into the interplay between the metabolic defect and retinal pathology in SLS, and raises the potential for new therapeutic approaches to reverse some aspects of the maculopathy.

Indexed as

MutationAdolescentAdultAldehyde OxidoreductasesChildFemaleHumansLongitudinal StudiesMacula LuteaMacular DegenerationMalePedigreePhenotypeSjogren-Larsson SyndromeYoung AdultAldehyde Oxidoreductaseslong-chain-aldehyde dehydrogenaseALDH3A2Fatty alcoholfatty aldehydeimage analysismaculopathy

Identifiers

PMID32506993
PMCPMC7425776
OpenAlexW3033081736

What OpenQuestion holds

Textmetadata
LicenceTDM
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.