Evidence map›Paper›PMID 23157966›Full record

ReviewHuman genomics2012

Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations.

Eman Elhawy, Gautam Kamthan, Cecilia Q Dong, John Danias

Open access · goldAbstract readReview
In one paragraph

Review in Human genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 2 pooled it
7.2field-weighted citation impact, top 3% 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

72 citing papers in PubMed, 2 syntheses or guidelines pooled it, 128 citations in OpenAlex.

  1. Pooled it
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  8. Vitreoretinal interface features in epiretinal membrane associated with pseudoexfoliation syndrome.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025
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  18. Review
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12 more citing papers are in PubMed but not listed here.

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 2 institutions in 1 country.

Eman ElhawyDepartment of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA.
Gautam Kamthan
Cecilia Q Dong
John Danias
SUNY Downstate Health Sciences University · USMount Sinai Medical Center · US

Funding

Retinal gene expression changes in glaucomaR01EY015224 · NEI · SUNY DOWNSTATE MEDICAL CENTER · PI DANIAS, JOHN · 2004 to 2012
$3.9M
Molecular mechanisms in steroid-induced glaucoma.R01EY020670 · NEI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI CANDIA, OSCAR A, DANIAS, JOHN · 2010 to 2012
$1.5M
NEI NIH HHS EY20670NEI NIH HHS R01 EY020670NEI NIH HHS R01 EY15224
6 · The paper itself

Abstract

Pseudoexfoliation syndrome (PXS) is a systemic condition with eye manifestations. In the eye, pseudoexfoliation material deposits on various structures of the anterior segment. The nature of this material is mostly fibrillar with fibers made up of microfibrils and coated with amorphous material. The composition of these fibrils is diverse and includes basement membrane components as well as enzymes involved in extracellular matrix maintenance. Pseudoexfoliation is the most common cause of secondary open-angle glaucoma (pseudoexfoliation glaucoma, PXG) worldwide. The goal of this review is to summarize our knowledge on the genetics of this systemic disorder and its resultant ocular manifestations. PXS familial aggregation suggests genetic inheritance. PXS has been strongly associated with single nucleotide polymorphisms (SNPs) of the lysyl oxidase-like 1 (LOXL1) gene on chromosome 15q24.1. Two of these SNPs confer a higher than 99% population attributable risk for PXS and PXG in the Nordic population; however, they carry different risks in different populations. The high risk haplotypes also vary among different populations. LOXL1 is one of group of the enzymes involved in the cross-linking of collagen and elastin in the extracellular matrix. Its function in connective tissue maintenance has been confirmed in mice; however, its actual role in PXS remains unclear. Contactin-associated protein-like 2 also has a strong genetic association with PXS in a German cohort and is an attractive candidate molecule. It encodes for a protein involved in potassium channel trafficking. Other candidate genes linked to PXS include lysosomal trafficking regulator, clusterin, adenosine receptors, matrix metalloproteinase-1 (MMP1), and glutathione transferase. These genes may be modifying genes for development of PXS and PXG.

Indexed as

Amino Acid OxidoreductasesChromosomes, Human, Pair 15ClusterinCollagenElastinExfoliation SyndromeExtracellular MatrixEyeGene-Environment InteractionGlaucoma, Open-AngleGlutathione TransferaseHaplotypesHumansMatrix Metalloproteinase 1Polymorphism, Single NucleotideReceptor, Adenosine A3Amino Acid OxidoreductasesClusterinCollagenElastinGlutathione TransferaseLOXL1 protein, humanMatrix Metalloproteinase 1MMP1 protein, humanReceptor, Adenosine A3

Identifiers

PMID23157966
PMCPMC3500235
OpenAlexW2116379013

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.