XFS
MCID: EXF001
MIFTS: 56

Exfoliation Syndrome (XFS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Exfoliation Syndrome

MalaCards integrated aliases for Exfoliation Syndrome:

Name: Exfoliation Syndrome 56 12 73 43 15 39 17 71
Pseudoexfoliation Glaucoma 56 12 29 54 6
Exfoliation Syndrome, Susceptibility to 56 29 13 6
Pseudoexfoliation Syndrome 56 12 73 54
Pseudoexfoliation of the Lens 56 73
Exfoliation Glaucoma 56 73
Xfs 56 73
Xfg 56 73
Pseudoexfoliation Glaucoma; Pexg 56
Pseudoexfoliation Syndrome; Pexs 56
Pseudo-Exfoliation Syndrome 73
Exfoliation Glaucoma; Xfg 56
Exfoliative Syndrome 73
Glaucoma Capsulare 73
Pexg 56
Pexs 56
Pex 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
prevalence rates average 10-20% of the general population over age 60
regional, racial, and ethnic clustering has been noted


HPO:

31
exfoliation syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13641
OMIM 56 177650
ICD9CM 34 365.52
NCIt 49 C129025
SNOMED-CT 67 111514006
MedGen 41 C0206368
UMLS 71 C0206368

Summaries for Exfoliation Syndrome

Disease Ontology : 12 A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.

MalaCards based summary : Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to open-angle glaucoma and glaucoma-related pigment dispersion syndrome, and has symptoms including progressive decreased vision An important gene associated with Exfoliation Syndrome is LOXL1 (Lysyl Oxidase Like 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Cell adhesion_Cell-matrix glycoconjugates. The drugs Tobramycin and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are cataract and lens subluxation

OMIM : 56 Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by Schlotzer-Schrehardt and Naumann, 2006). (177650)

UniProtKB/Swiss-Prot : 73 Exfoliation syndrome: A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues.

Wikipedia : 74 Pseudoexfoliation syndrome, often abbreviated as PEX and sometimes as PES or PXS, is an aging-related... more...

Related Diseases for Exfoliation Syndrome

Diseases related to Exfoliation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 open-angle glaucoma 30.6 MTHFR MMP1 LOXL1 GSTM1 ELN APOE
2 glaucoma-related pigment dispersion syndrome 30.3 LYST LOXL1
3 glaucoma, primary open angle 30.2 SERPINA3 LOXL1 GSTM1 FBN1 ELN
4 aneurysm 30.2 LOX FBN1 ELN
5 intraocular pressure quantitative trait locus 30.1 SERPINA3 MMP1 LOXL1 FBN1 ELN ADORA3
6 atherosclerosis susceptibility 30.0 OLR1 MTHFR ELN APOE
7 aortic dissection 29.9 LOX FBN1 ELN
8 heart valve disease 29.8 SERPINA3 FBN1 ELN
9 vascular disease 29.8 OLR1 MTHFR MMP3 ELN APOE
10 cerebrovascular disease 29.8 SERPINA3 MTHFR GSTM1 APOE
11 inguinal hernia 29.7 MMP1 LOXL1 LOX FBN1 ELN
12 lens subluxation 29.6 MTHFR LOXL1 FBN1
13 aortic aneurysm 29.6 MMP3 LOX FBN1 ELN APOE
14 keratoconus 29.6 MMP3 MMP1 LOX FBN1 ELN
15 pulmonary disease, chronic obstructive 29.5 SERPINA3 MMP1 GSTP1 GSTM1 ELN
16 cataract 29.4 MTHFR MMP3 LOXL1 GSTP1 GSTM1 FBN1
17 pelvic organ prolapse 29.3 MMP3 MMP1 LOXL1 LOX FBN1 ELN
18 homocystinuria 29.3 MTHFR LOX FBN1
19 migraine with or without aura 1 29.2 MTHFR GSTM1 CACNA1A APOE ADORA3
20 varicose veins 29.2 MTHFR MMP3 MMP1 FBN1 ELN
21 aortic aneurysm, familial abdominal, 1 29.1 SERPINA3 MMP3 MMP1 FBN1 ELN APOE
22 coronary heart disease 1 29.0 OLR1 MTHFR APOE
23 homocysteinemia 28.9 MTHFR FBN1 ELN CLU APOE
24 zellweger syndrome 11.8
25 peroxisome biogenesis disorder 1b 11.7
26 neonatal adrenoleukodystrophy 11.7
27 peroxisomal biogenesis disorder 11.5
28 refsum disease, infantile form 11.5
29 peeling skin syndrome 11.2
30 peroxisomal disease 11.2
31 hypophosphatemic rickets, x-linked dominant 10.5
32 blepharochalasis 10.5 SERPINA3 ELN
33 hypophosphatemic rickets, x-linked recessive 10.5
34 hypophosphatemia 10.5
35 odontogenic myxoma 10.4 SERPINA3 MMP1
36 superior limbic keratoconjunctivitis 10.4 MMP3 MMP1
37 bladder diverticulum 10.4 LOX ELN
38 tendinopathy 10.4 MMP3 MMP1
39 spastic entropion 10.4 MMP3 MMP1
40 intracranial aneurysm 10.4 LOX ELN APOE
41 cerebral atherosclerosis 10.3 SERPINA3 MTHFR APOE
42 alpha-1-antitrypsin deficiency 10.3 SERPINA3 MMP1 ELN
43 deafness, autosomal recessive 97 10.3 SERPINA3 SEMA6A
44 venous insufficiency 10.3 MTHFR MMP1 ELN
45 carotid stenosis 10.3 MTHFR MMP1 APOE
46 arteritic anterior ischemic optic neuropathy 10.3 MTHFR GSTM1
47 ocular hypertension 10.3
48 intracranial hypertension 10.3 SERPINA3 MTHFR CACNA1A
49 vascular dementia 10.2 SERPINA3 MTHFR APOE
50 pulmonary emphysema 10.2 SERPINA3 MMP1 LOX ELN

Graphical network of the top 20 diseases related to Exfoliation Syndrome:



Diseases related to Exfoliation Syndrome

Symptoms & Phenotypes for Exfoliation Syndrome

Human phenotypes related to Exfoliation Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 lens subluxation 31 HP:0001132
3 glaucoma 31 HP:0000501
4 rigidity 31 HP:0002063
5 mydriasis 31 HP:0011499
6 retinal vein occlusion 31 HP:0012636
7 pigment deposition in the trabecular meshwork 31 HP:0012631
8 anisocoria 31 HP:0009916
9 pseudoexfoliation 31 HP:0012627
10 phakodonesis 31 HP:0012629
11 asymmetry of intraocular pressure 31 HP:0012633
12 iris hypoperfusion 31 HP:0012635

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
lens subluxation
retinal vein occlusion
pigment deposition in the trabecular meshwork
asymmetry of intraocular pressure
abnormal fibrillar extracellular material in anterior segment tissues
more

Clinical features from OMIM:

177650

Symptoms:

12
  • progressive decreased vision

MGI Mouse Phenotypes related to Exfoliation Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADORA3 APOE CACNA1A CLU CNTNAP2 FBN1
2 homeostasis/metabolism MP:0005376 9.97 ADORA3 APOE CACNA1A CLU FBN1 LOX
3 integument MP:0010771 9.7 ADORA3 APOE CACNA1A CNTNAP2 FBN1 GSTP1
4 respiratory system MP:0005388 9.17 ADORA3 APOE CACNA1A FBN1 LOX LOXL1

Drugs & Therapeutics for Exfoliation Syndrome

Drugs for Exfoliation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Bromfenac Approved Phase 4 91714-94-2 60726
5
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
6
Timolol Approved Phase 4 26839-75-8 5478 33624
7
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
8
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
9
Maleic acid Experimental, Investigational Phase 4 110-17-8, 110-16-7 444972
10 Cloprostenol Vet_approved Phase 4 54276-21-0
11 Pharmaceutical Solutions Phase 4
12 Hormones Phase 4
13 Antineoplastic Agents, Hormonal Phase 4
14 glucocorticoids Phase 4
15 Hormone Antagonists Phase 4
16 Anti-Inflammatory Agents Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Analgesics Phase 4
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4
20 Antirheumatic Agents Phase 4
21 Gastrointestinal Agents Phase 4
22 Anti-Infective Agents Phase 4
23 Antiemetics Phase 4
24 Adrenergic Agents Phase 4
25 calcium heparin Phase 4
26 Adrenergic beta-Antagonists Phase 4
27 Anti-Arrhythmia Agents Phase 4
28 Adrenergic Antagonists Phase 4
29 Contraceptive Agents Phase 4
30
Dipivefrin Approved Phase 3 52365-63-6 3105
31
Apraclonidine Approved Phase 3 66711-21-5 2216
32
Travoprost Approved Phase 3 157283-68-6 5282226
33
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
34
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
35 Proxymetacaine Phase 3
36 Brimonidine Tartrate Phase 3 70359-46-5
37 Lubricant Eye Drops Phase 3
38 Immunologic Factors Phase 2, Phase 3
39 triamcinolone acetonide Phase 2, Phase 3
40 Triamcinolone diacetate Phase 2, Phase 3
41 Immunosuppressive Agents Phase 2, Phase 3
42 Triamcinolone hexacetonide Phase 2, Phase 3
43 Antimetabolites Phase 2, Phase 3
44 Endothelial Growth Factors Phase 2, Phase 3
45 Mitogens Phase 2, Phase 3
46 Gentamicins Phase 2, Phase 3
47 Angiogenesis Inhibitors Phase 2, Phase 3
48 Antineoplastic Agents, Immunological Phase 2, Phase 3
49
rituximab Approved Phase 2 174722-31-7 10201696
50
Gemcitabine Approved Phase 2 95058-81-4 60750

Interventional clinical trials:

(show top 50) (show all 71)
# Name Status NCT ID Phase Drugs
1 The Reggio Emilia Study on Bromfenac for Patients With PseudoEXfoliation Syndrome Undergoing Cataract Surgery: the REPEX Study Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
2 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
3 Efficacy Of The Bimatoprost/Timolol Fixed Combination In Patients Treated With Bimatoprost for Primary Open Angle Glaucoma, Exfoliation Glaucoma or Ocular Hypertension. Completed NCT00941096 Phase 4 Bimatoprost and Bimatoprost/Timolol fixed combination.
4 Assessing Cosopt Switch Patients Completed NCT00273442 Phase 4 timolol maleate;dorzolamide/timolol maleate fixed combination
5 24-Hour Intraocular Pressure Control Obtained With the Bimatoprost/Timolol Fixed Combination Compared With Latanoprost as First Choice Therapy in Subjects With Exfoliation Syndrome, or Exfoliative Glaucoma Completed NCT01448837 Phase 4 Bimatoprost/Timolol, 24-hour intraocular pressure monitoring;Latanoprost, 24-hour intraocular pressure monitoring
6 Randomized Multicentre Prospective Study of Selective Laser Trabeculoplasty (SLT) vs. Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension Completed NCT01126203 Phase 3
7 The Effect of Intracameral Triesence (Triamcinolone Acetonide Injectable Suspension) on Ocular Inflammation After Trabeculectomy, Tube Shunt Implantation or Combined Trabeculectomy With Cataract Surgery Completed NCT00853905 Phase 2, Phase 3 Triesence;balanced salt solution BSS
8 24-Hour Intraocular Pressure (IOP) Control With Travoprost/Timolol Fixed Combination Completed NCT00331240 Phase 3 travoprost/timolol fixed combination;placebo (artificial tears)
9 Bevacizumab Versus Mitomycin C as Trabeculectomy Adjuvant in Uncontrolled Glaucoma: A Randomized Pilot Trial. Completed NCT02901236 Phase 2, Phase 3 Mitomycin C;Bevacizumab
10 A Study to Assess the Safety, Efficacy and Tolerability of Rituximab (Mabthera) in Combination With Plasma Exchange (PEX) in Patients With Acute Thrombotic Thrombocytopenic Purpura (TTP) Unknown status NCT00937131 Phase 2 Rituximab
11 A Prospective Study to Assess the Hypotensive Efficacy of Rho-Kinase Inhibitor AR-12286 Ophthalmic Solution 0.5% and 0.7% in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma Completed NCT01936389 Phase 2 AR-12286
12 Randomized Phase II-III Trial of Peri- or Post-Operative Chemotherapy in Resectable Pancreatic Adenocarcinoma Completed NCT01150630 Phase 2 capecitabine;cisplatin;epirubicin;gemcitabine
13 PEXG (Cisplatin, Epirubicin, Capecitabine, Gemcitabine) Versus PDXG (Cisplatin, Docetaxel, Capecitabine, Gemcitabine) in Locally Advanced or Metastatic Pancreatic Adenocarcinoma: A Randomized Phase II Trial Completed NCT00966706 Phase 2 capecitabine;cisplatin;docetaxel;epirubicin hydrochloride;gemcitabine hydrochloride
14 Phacotrabeculectomy With Collagen Matrix Implant (Ologen®) Versus Mitomycin C Augmented Phacotrabeculectomy: Clinical Results of a Prospective Randomized Trial Completed NCT03506542 Phase 2 Mitomycin C
15 A Pilot Study of Neoadjuvant and Adjuvant mFOLFIRINOX in Localized, Resectable Pancreatic Adenocarcinoma Completed NCT01660711 Phase 2 5 Fluorouracil;Leucovorin;Irinotecan;Oxaliplatin
16 Evaluation of LOXL1 Polymorphism in Pseudoexfoliation Syndrome in the Korean Population Unknown status NCT01515735
17 Monitoring of the Intraocular Pressure After Selective Laser Trabeculoplasty Using iCare Home Unknown status NCT03310788
18 Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory Study Unknown status NCT02155478
19 Prospective Study to Examine the Efficacy of a Capsular Tension Ring (CTR) in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome (XFS) With no Zonular Weakness Unknown status NCT01455168
20 Measurement of Ocular Tensional Fluctuation by Triggerfish Lens Before and After Cataract Surgery in Patients With Exfoliative Glaucoma Unknown status NCT02658071
21 Glaucoma Including Pseudoexfoliation Syndrome (SFB 539) Unknown status NCT00947869
22 The International Collaborative Exfoliation Syndrome Treatment Study Unknown status NCT00804115 Latanoprost with Pilocarpine vs Timolol or Cosopt
23 Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery: an Exploratory Study Unknown status NCT01778959
24 Comparison of Efficacy of Prostaglandin Analogues (Xalatan) and Aqueous Suppressants (Cosopt) in Reducing Intraocular Pressure Following Selective Laser Trabeculoplasty in the Management of Open-Angle Glaucoma. Unknown status NCT00440336 Cosopt;Xalatan
25 Following Patients After Selective and Pascal Laser Trabeculoplasty for Treatment of Chronic Open-Angle Glaucoma Unknown status NCT02679482
26 Corneal Endothelial Cell Loss After Trabeculectomy Versus Combined Trabeculectomy Phakoemulsification and IOL Implantation Unknown status NCT03107000
27 Study of the Efficacy of a Single Session Micropulse Laser Trabeculoplasty as an Adjunctive Measure in Decreasing Intraocular Pressure in Patients Suffering From Pseudoexfoliation Glaucoma Completed NCT03483402
28 Pseudoexfoliation Syndrome in Myopes Defined With Optical Low Coherence Reflectometry Completed NCT01637740
29 Assessment of Long-term Intraocular Lens (IOL) Decentration and Tilt in Eyes With Pseudoexfoliation Syndrome (PES) Following Cataract Surgery Completed NCT03453827
30 Plasma Levels of Matrix Metalloproteinases and Degree of DNA Fragmentation in Patients With Pseudoexfoliation Syndrome and Open-Angle Glaucoma (PEXG) Completed NCT00327613
31 Changes in Ocular Rigidity After Trabeculectomy in Patients With POAG or PEX Completed NCT02544646
32 Anti-inflammatory Therapy Following Selective Laser Trabeculoplasty (SLT): A Randomized, Masked, Placebo Controlled Study Completed NCT00485108 prednisolone 1%;ketorolac 0.5%;Artificial Tears (Methyl cellulose drops)
33 A Comparison of the Additivity of Brinzolamide Ophthalmic Suspension, 1% (Azopt) and Brimonidine Tartrate Ophthalmic Solution, 0.15% (Alphagan P) to Travoprost Ophthalmic Solution, 0.004% (Travatan) in Patients With Elevated IOP on Travoprost. A Three Month Double-Masked, Multi-Center Trial in the United States Completed NCT00121147 Travatan;Azopt;Alphagan P
34 Optical Low Coherence Reflectometry Enables Preoperative Detection of Zonular Weakness in Pseudoexfoliation Syndrome Completed NCT01298895
35 Evaluation of Scanning Laser Polarimetry Findings in Individuals With Exfoliation Syndrome Compared With Normal Controls Completed NCT01022281
36 A Prospective, Multicenter Clinical Trial Designed to Evaluate the Safety and Performance of the AqueSys XEN 45 Glaucoma Implant in Subjects With Refractory Glaucoma Completed NCT02036541
37 Central Corneal Thickness in Patients With Exfoliation Syndrome, Exfoliative Glaucoma, Exfoliative Glaucoma, Primary Open-angle Glaucoma and Ocular Hypertension Completed NCT01023997
38 Messenger Ribonucleic Acid Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509
39 The Efficacy of Citicoline in Eyedrops (OMK1) in Reducing the Progression of Glaucoma Completed NCT04020705
40 Clinical Factors Associated With Floppy Iris Signs: a Prospective Study From Two Centers Completed NCT00472888
41 A 3-month, Observational Study Investigating With Electronic Monitoring the Level of Adherence and Treatment Satisfaction With Latanoprost/Timolol Fixed Combination Versus Unfixed Therapy in Open-angle Glaucoma Completed NCT01281020
42 Outcomes of Cataract Surgeries in Patients With Advanced Age Completed NCT04140383
43 The Diurnal and Nocturnal Effect of Simbrinza and Timolol on Intraocular Pressure and Ocular Perfusion Pressure Completed NCT02165631
44 The Effect of Hydrodynamic Parameters on Corneal Endothelial Cell Loss After Phacoemulsification Completed NCT00370955
45 Late Dislocation and Haptic Deformation of a Hydrophilic Intraocular Lens: Characteristics, Incidence Rates and Predisposing Factors Completed NCT02747667
46 Evaluation of Choroidal Thickness Using Spectral Optical Coherence Tomography in Pseudoexfoliation Glaucoma and Primary Open Angle Glaucoma Completed NCT03373942
47 Analysis of Killer Immunoglobulin-like Receptor Transcripts Expression for the Diagnosis of Epidermotropic Cutaneous T-cell Lymphomas (Mycosis Fungoid and Sézary Syndrome) in Patients With Erythroderma or Erythematous Patches/Plaques. Completed NCT00748319
48 Diagnostic Imaging for Intraoperative Floppy Iris Syndrome Completed NCT01252472
49 Investigating the Genetic Basis of Pseudoexfoliation Syndrome and Angle-closure Glaucoma Recruiting NCT03423758
50 IOP Monitoring After Trabeculectomy Using iCare Home Recruiting NCT03445806

Search NIH Clinical Center for Exfoliation Syndrome

Cochrane evidence based reviews: exfoliation syndrome

Genetic Tests for Exfoliation Syndrome

Genetic tests related to Exfoliation Syndrome:

# Genetic test Affiliating Genes
1 Pseudoexfoliation Glaucoma 29 LOXL1
2 Exfoliation Syndrome, Susceptibility to 29

Anatomical Context for Exfoliation Syndrome

MalaCards organs/tissues related to Exfoliation Syndrome:

40
Eye, Endothelial, Retina, Testes, T Cells, Skin, Prostate

Publications for Exfoliation Syndrome

Articles related to Exfoliation Syndrome:

(show top 50) (show all 938)
# Title Authors PMID Year
1
Association of LOXL1 gene with Finnish exfoliation syndrome patients. 56 6 54 61
19343041 2009
2
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. 54 56 6
18037624 2008
3
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. 6 56 61
17690259 2007
4
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. 56 61
26307087 2015
5
Solar exposure and residential geographic history in relation to exfoliation syndrome in the United States and Israel. 61 56
25188364 2014
6
Proteomic analysis of exfoliation deposits. 56 61
17389470 2007
7
Clusterin deficiency in eyes with pseudoexfoliation syndrome may be implicated in the aggregation and deposition of pseudoexfoliative material. 56 54
16639006 2006
8
Selective upregulation of the A3 adenosine receptor in eyes with pseudoexfoliation syndrome and glaucoma. 56 54
15914619 2005
9
Exfoliation syndrome in black South Africans. 56 61
12796260 2003
10
Exfoliation syndrome among Azerbaijani. 61 56
12796278 2003
11
Exfoliation syndrome: clinical and genetic features. 61 56
11559859 2001
12
Ocular hemodynamics in pseudoexfoliation syndrome and pseudoexfoliation glaucoma. 61 56
11382627 2001
13
Exfoliation syndrome. 56 61
7369310 1980
14
The basement membrane exfoliation syndrome. 61 56
420639 1979
15
Prevalence of pseudo-exfoliation syndrome in an urban South African clinic population. 56 61
5075128 1972
16
LOXL1 Hypermethylation in Pseudoexfoliation Syndrome in the Uighur Population. 56
26348632 2015
17
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. 56
20808326 2011
18
Ocular and systemic pseudoexfoliation syndrome. 56
16678509 2006
19
Risk of glaucoma in ocular hypertension with and without pseudoexfoliation. 56
15745763 2005
20
Factors associated with long-term progression or stability in exfoliation glaucoma. 56
14718291 2004
21
Pseudoexfoliation in a rural population of southern India: the Aravind Comprehensive Eye Survey. 56
12788123 2003
22
Role of transforming growth factor-beta1 and its latent form binding protein in pseudoexfoliation syndrome. 56
11846508 2001
23
Pseudoexfoliative material contains an elastic microfibrillar-associated glycoprotein. 56
3590474 1986
24
Pseudoexfoliation of the lens in Australian Aborigines. 56
889760 1977
25
Racial incidence of pseudoexfoliation of the lens capsule. 56
5069187 1972
26
Pseudo-exfoliation of the lens capsule: relation to true exfoliation of the lens capsule as reported in the literature and role in the production of glaucoma capsulocuticulare. 56
13114317 1954
27
Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. 54 61
20142848 2010
28
Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 61 54
20038976 2009
29
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. 61 54
19936304 2009
30
From epidemiology to lysyl oxidase like one (LOXL1) polymorphisms discovery: phenotyping and genotyping exfoliation syndrome and exfoliation glaucoma in Iceland. 61 54
19664108 2009
31
Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese. 61 54
19503743 2009
32
Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. 61 54
18648524 2008
33
Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with primary open angle glaucoma and exfoliation syndrome. 54 61
18636115 2008
34
Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. 54 61
18385063 2008
35
Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 54 61
18385788 2008
36
Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. 54 61
18201684 2008
37
Elastosis of the lamina cribrosa in glaucomatous optic neuropathy. 54 61
9878213 1998
38
Elastosis of the lamina cribrosa in pseudoexfoliation syndrome with glaucoma. 54 61
7777294 1995
39
[Effects of porcine pancreatic elastase-1 on elastin in human trabecular meshwork--immunohistochemical studies: Report 4. Pseudoexfoliation glaucoma]. 54 61
8030566 1994
40
Relationship between homocysteine levels, anterior chamber depth, and pseudoexfoliation glaucoma in patients with pseudoexfoliation. 61
32212027 2020
41
Prevalence of Pseudoexfoliation Glaucoma Risk-associated Variants Within Lysyl Oxidase-like 1 in an Irish Population. 61
32102031 2020
42
Small incision cataract surgery with trabeculectomy versus phacoemulsification trabeculectomy in pseudoexfoliation glaucoma. 61
32461436 2020
43
A case report of pseudo-exfoliation syndrome with prolonged corneal epithelial regeneration because of erlotinib-induced unilateral corneal ulcer and anterior uveitis. 61
32483873 2020
44
Lens epithelial surface disorders in exfoliation syndrome: a scanning and transmission electron microscopy study. 61
32403107 2020
45
Comparison of the Lamina Cribrosa Parameters in Eyes with Exfoliation Syndrome, Exfoliation Glaucoma and Healthy Subjects. 61
32454088 2020
46
Peripapillary and Macular Vessel Density Measurement by Optical Coherence Tomography Angiography in Pseudoexfoliation and Primary Open-angle Glaucoma. 61
32079991 2020
47
[Recurrent choroidal detachment in a patient undergoing hormone therapy for prostate cancer]. 61
31455973 2020
48
A comparison of the corneal biomechanics in pseudoexfoliation syndrome, pseudoexfoliation glaucoma, and healthy controls using Corvis® Scheimpflug Technology. 61
32317447 2020
49
Static and dynamic pupil characteristics in pseudoexfoliation syndrome and glaucoma. 61
31364197 2020
50
Intraocular Pressure Elevation in Keratoconus with Coexisting Pseudoexfoliation Glaucoma: How Important is the Method of Measurement? 61
32131126 2020

Variations for Exfoliation Syndrome

ClinVar genetic disease variations for Exfoliation Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOXL1 NM_005576.4(LOXL1):c.422G>T (p.Arg141Leu)SNV risk factor 14360 rs1048661 15:74219546-74219546 15:73927205-73927205
2 LOXL1 NM_005576.4(LOXL1):c.458G>A (p.Gly153Asp)SNV risk factor 14361 rs3825942 15:74219582-74219582 15:73927241-73927241
3 LOXL1 NM_005576.4(LOXL1):c.1102+1976T>CSNV risk factor 14362 rs2165241 15:74222202-74222202 15:73929861-73929861
4 LTBP2 NM_000428.3(LTBP2):c.1999A>C (p.Ile667Leu)SNV Likely pathogenic 126953 rs137854859 14:74995814-74995814 14:74529111-74529111
5 LTBP2 NM_000428.3(LTBP2):c.4699A>G (p.Met1567Val)SNV Likely pathogenic 132837 rs137854864 14:74970193-74970193 14:74503490-74503490
6 LTBP2 NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)SNV Conflicting interpretations of pathogenicity 126949 rs137854861 14:75018994-75018994 14:74552291-74552291
7 LTBP2 NM_000428.3(LTBP2):c.3527-14T>CSNV Uncertain significance 132836 rs137854886 14:74975446-74975446 14:74508743-74508743

Expression for Exfoliation Syndrome

Search GEO for disease gene expression data for Exfoliation Syndrome.

Pathways for Exfoliation Syndrome

Pathways related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 MMP3 MMP1 LOXL1 LOX FBN1 ELN
2 10.92 MMP3 MMP1 ELN
3
Show member pathways
10.79 LOXL1 LOX FBN1 ELN

GO Terms for Exfoliation Syndrome

Cellular components related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 SERPINA3 SEMA6A MMP3 LOXL1 LOX GSTP1
2 extracellular region GO:0005576 9.9 SERPINA3 OLR1 MMP3 MMP1 LOXL1 LOX
3 collagen-containing extracellular matrix GO:0062023 9.43 SERPINA3 LOXL1 FBN1 ELN CLU APOE
4 extracellular matrix GO:0031012 9.17 MMP3 MMP1 LOXL1 LOX FBN1 ELN

Biological processes related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein complex assembly GO:0031334 9.58 MMP3 MMP1 CLU
2 reverse cholesterol transport GO:0043691 9.51 CLU APOE
3 response to reactive oxygen species GO:0000302 9.49 GSTP1 APOE
4 response to amyloid-beta GO:1904645 9.48 MMP3 CACNA1A
5 negative regulation of amyloid-beta formation GO:1902430 9.46 CLU APOE
6 hepoxilin biosynthetic process GO:0051122 9.43 GSTP1 GSTM1
7 negative regulation of amyloid fibril formation GO:1905907 9.37 CLU APOE
8 peptidyl-lysine oxidation GO:0018057 9.32 LOXL1 LOX
9 protein import GO:0017038 9.26 CLU APOE
10 positive regulation of amyloid fibril formation GO:1905908 9.16 CLU APOE
11 extracellular matrix organization GO:0030198 9.1 MMP3 MMP1 LOXL1 LOX FBN1 ELN
12 regulation of amyloid-beta clearance GO:1900221 8.96 CLU APOE

Molecular functions related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.43 CLU CACNA1A APOE
2 glutathione binding GO:0043295 9.32 GSTP1 GSTM1
3 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 ELN
4 oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor GO:0016641 8.96 LOXL1 LOX
5 protein-lysine 6-oxidase activity GO:0004720 8.62 LOXL1 LOX

Sources for Exfoliation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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