Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (768 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Exfoliation Syndromes; Syndrome, Exfoliation; Syndromes, Exfoliation; Glaucoma Capsulare; Pseudoexfoliation Syndrome; Pseudoexfoliation Syndromes; Syndrome, Pseudoexfoliation; Syndromes, Pseudoexfoliation.
Where it fits in the MeSH classification
- Broader topics
- Iris Diseases
- See also
- Glaucoma, Open-Angle
Research landscape
PubMed indexes 2,318 records tagged with the MeSH heading “Exfoliation Syndrome” (counts retrieved 2026-11-04). 510 of them (22.0%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 884 records.
Reviews account for 214 records (9.2%) and meta-analyses for 31. Randomized controlled trials number 98 (4.2%) as a share of all records on the topic.
Show the data
| Period | Records |
|---|---|
| through 1999 | 239 |
| 2000-2009 | 685 |
| 2010-2019 | 884 |
| 2020 onward | 510 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 214 | 9.2% |
| Meta-analyses | 31 | 1.3% |
| Randomized controlled trials | 98 | 4.2% |
Method: PubMed query "Exfoliation Syndrome"[MeSH Terms] with publication-type and date filters, retrieved 2026-11-04.
Reading the evidence in eye, ear, nose and throat
Eye, hearing, nose and throat studies rely on specialist tests (visual acuity, eye pressure, audiograms, scopes) and on patient-reported symptoms, which vary between people and with age. Some conditions improve without treatment, so comparison groups matter. Nothing on this page is advice about diagnosis or treatment; sudden loss of sight or hearing needs urgent care from a qualified clinician. Check how the outcome was tested, the age of the people studied and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Ocular pseudoexfoliation syndrome and vascular disease: a systematic review and meta-analysis | 2014 | Meta-analysis Design not recorded in structured metadata | 69 | cc by PMID 24667689 · DOI · PMC3965457 |
| Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations | 2020 | Review article Design not recorded in structured metadata | 68 | cc by PMID 33396423 · DOI · PMC7823611 |
| LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population | 2008 | Research article Design not recorded in structured metadata | 67 | cc by PMID 18552979 · PMC2426718 |
| The Ocular Surface and the Anterior Segment of the Eye in the Pseudoexfoliation Syndrome: A Comprehensive Review | 2025 | Review article Design not recorded in structured metadata | 3 | cc by PMID 39859251 · DOI · PMC11765469 |
Ocular pseudoexfoliation syndrome and vascular disease: a systematic review and meta-analysis [1]
Abstract reading summary — source excerpts
- Opening excerpt
- ObjectiveMany studies have assessed the association between ocular pseudoexfoliation syndrome (PEX) and vascular disease and produced controversial results.
- Closing excerpt
- Because of the limitations of the included studies and meta-analysis, the findings need to be confirmed in future research via well-designed cohort studies.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (247 words)
ObjectiveMany studies have assessed the association between ocular pseudoexfoliation syndrome (PEX) and vascular disease and produced controversial results. We performed a meta-analysis of epidemiologic studies to evaluate this relationship.MethodsEligible studies that reported the incidence of vascular disease among PEX and control groups were identified via computer searches and reviewing the reference lists of the key articles. The summary odds ratio (OR) and 95% confidence interval (CI) were pooled using a random-effects model. Meta-regression to assess heterogeneity by several covariates and a subgroup analysis on study design and population were performed. Publication bias was tested by Begg's funnel plot and Egger's regression test.ResultsSixteen eligible studies involving 8,533 PEX patients and 135,720 control patients were included in the meta-analysis. All studies were performed primarily in whites with a mean age between 54.7 and 77.1 years. The overall combined ORs for patients with PEX compared with the reference group were 1.72 (95% CI: 1.31 to 2.26) for any vascular disease, 1.61 (95% CI: 1.22 to 2.14) for coronary heart disease, 1.59 (95% CI: 1.12 to 2.23) for cerebrovascular disease, and 2.48 (95% CI: 1.30 to 4.72) for aortic aneurysm. There was evidence of statistical heterogeneity; however, subgroup and sensitivity analyses showed this result to be robust. No evidence of publication bias was observed.ConclusionsThe overall current literature suggests that PEX was associated with increased risk of vascular disease. Because of the limitations of the included studies and meta-analysis, the findings need to be confirmed in future research via well-designed cohort studies.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 24667689 · DOI · PMC3965457
Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Glaucoma, the world's leading cause of irreversible blindness, is a complex disease, with differential presentation as well as ethnic and geographic disparities.
- Closing excerpt
- Large scale carefully designed studies are required to advance understanding of genetic loci as RF in glaucoma pathophysiology and to improve diagnosis and treatment options.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (228 words)
Glaucoma, the world's leading cause of irreversible blindness, is a complex disease, with differential presentation as well as ethnic and geographic disparities. The multifactorial nature of glaucoma complicates the study of genetics and genetic involvement in the disease process. This review synthesizes the current literature on glaucoma and genetics, as stratified by glaucoma subtype and ethnicity. Primary open-angle glaucoma (POAG) is the most common cause of glaucoma worldwide, with the only treatable risk factor (RF) being the reduction of intraocular pressure (IOP). Genes associated with elevated IOP or POAG risk include: ABCA1, AFAP1, ARHGEF12, ATXN2, CAV1, CDKN2B-AS1, FOXC1, GAS7, GMDS, SIX1/SIX6, TMCO1, and TXNRD2. However, there are variations in RF and genetic factors based on ethnic and geographic differences; it is clear that unified molecular pathways accounting for POAG pathogenesis remain uncertain, although inflammation and senescence likely play an important role. There are similar ethnic and geographic complexities in primary angle closure glaucoma (PACG), but several genes have been associated with this disorder, including MMP9, HGF, HSP70, MFRP, and eNOS. In exfoliation glaucoma (XFG), genes implicated include LOXL1, CACNA1A, POMP, TMEM136, AGPAT1, RBMS3, and SEMA6A. Despite tremendous progress, major gaps remain in resolving the genetic architecture for the various glaucoma subtypes across ancestries. Large scale carefully designed studies are required to advance understanding of genetic loci as RF in glaucoma pathophysiology and to improve diagnosis and treatment options.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 33396423 · DOI · PMC7823611
LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population [3]
Abstract reading summary — source excerpts
- Opening excerpt
- PurposeWe performed genetic association studies using a native Japanese population to examine the reproducibility of results of lysyl oxidase-like 1 (LOXL1) genetic association studies for exfoliation glaucoma (XFG) beyond the differences of ethnicity.
- Closing excerpt
- Further genetic and functional studies are essential for clarifying XFG pathogenesis.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (195 words)
PurposeWe performed genetic association studies using a native Japanese population to examine the reproducibility of results of lysyl oxidase-like 1 (LOXL1) genetic association studies for exfoliation glaucoma (XFG) beyond the differences of ethnicity. We also quantified LOXL1 mRNA expression in the human lens capsule to examine the possible correlation between LOXL1 expression and XFG pathogenesis.MethodsWe performed a case-control study using 95 Japanese XFG patients and 190 controls. Real-time polymerase chain reaction (PCR) analysis was performed using lens capsules obtained during surgery.ResultsThe TT genotype in the single nucleotide polymorphism (SNP) rs1048661 and the GG genotype in the SNP rs3825942 in exon 1 of LOXL1 were significantly associated with an increased risk of XFG under recessive models (chi(2) test, p=5.34 x 10(-34) and p=2.1 x 10(-8), respectively). Quantification of LOXL1 mRNA expression demonstrated no significant difference between XFG and senile cataract samples.ConclusionsAlthough the functional effects of the LOXL1 SNP appear to be qualitative rather than quantitative, the amino acid substitution (R141L) caused by SNP rs1048661 is not a simple decisive factor for XFG due to the inverted allele frequency between Japanese XFG and Caucasian XFG patients. Further genetic and functional studies are essential for clarifying XFG pathogenesis.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 18552979 · PMC2426718
The Ocular Surface and the Anterior Segment of the Eye in the Pseudoexfoliation Syndrome: A Comprehensive Review [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Pseudoexfoliation syndrome (PXS) is an age-related fibrillopathy where fibrillar exfoliation material accumulates and deposits in ocular and extra-ocular tissue.
- Closing excerpt
- We also summarise the current understanding of the key genetic factors influencing the development of PXS.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (98 words)
Pseudoexfoliation syndrome (PXS) is an age-related fibrillopathy where fibrillar exfoliation material accumulates and deposits in ocular and extra-ocular tissue. Within the eye, this substance accumulates on the ocular surface and in the anterior segment of the eye, impacting ocular structures such as the conjunctiva, Tenon's capsule, sclera, cornea, iris, ciliary body, trabecular meshwork, and lens. This review aims to collate the current literature on how each anatomical part of the eye is affected by PXS, with a strong focus on molecular changes. We also summarise the current understanding of the key genetic factors influencing the development of PXS.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 39859251 · DOI · PMC11765469
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Exfoliation syndrome [5]
- Research article Biology of the extracellular matrix: an overview [6]
- Research article Ocular and systemic pseudoexfoliation syndrome [7]
- Research article Pseudoexfoliation syndrome for the comprehensive ophthalmologist. Intraocular and systemic manifestations [8]
- Research article Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma [9]
- Research article Why is glaucoma associated with exfoliation syndrome? [10]
References
- Wang W, He M, Zhou M, Zhang X. Ocular pseudoexfoliation syndrome and vascular disease: a systematic review and meta-analysis. . 2014. PMID 24667689 · DOI · PMC3965457
- Zukerman R, Harris A, Vercellin AV, Siesky B, Pasquale LR, Ciulla TA. Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations. . 2020. PMID 33396423 · DOI · PMC7823611
- Mori K, Imai K, Matsuda A, Ikeda Y, Naruse S, Hitora-Takeshita H, et al.. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. . 2008. PMID 18552979 · PMC2426718
- Thomas MN, Skopiński P, Roberts H, Woronkowicz M. The Ocular Surface and the Anterior Segment of the Eye in the Pseudoexfoliation Syndrome: A Comprehensive Review. . 2025. PMID 39859251 · DOI · PMC11765469
- Ritch R, Schlötzer-Schrehardt U. Exfoliation syndrome. Surv Ophthalmol. 2001. PMID 11166342 · DOI
- Yue B. Biology of the extracellular matrix: an overview. J Glaucoma. 2014. PMID 25275899 · DOI · PMC4185430
- Schlötzer-Schrehardt U, Naumann GO. Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol. 2006. PMID 16678509 · DOI
- Naumann GO, Schlötzer-Schrehardt U, Küchle M. Pseudoexfoliation syndrome for the comprehensive ophthalmologist. Intraocular and systemic manifestations. Ophthalmology. 1998. PMID 9627642 · DOI
- Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, et al.. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012. PMID 22570617 · DOI · PMC3343074
- Ritch R, Schlötzer-Schrehardt U, Konstas AG. Why is glaucoma associated with exfoliation syndrome?. Prog Retin Eye Res. 2003. PMID 12852486 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-11-04; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-11-04.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.