Exfoliation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EXF001 MIFTS: 55	Exfoliation Syndrome Categories: Genetic diseases, Eye diseases
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Aliases & Classifications for Exfoliation Syndrome

MalaCards integrated aliases for Exfoliation Syndrome:

Name: Exfoliation Syndrome ⁵⁷ ¹² ⁷⁵ ⁴⁴ ¹⁵ ⁴⁰ ⁷³

Pseudoexfoliation Glaucoma ⁵⁷ ¹² ²⁹ ⁵⁵ ⁶

Pseudoexfoliation Syndrome ⁵⁷ ¹² ⁷⁵ ⁵⁵

Exfoliation Syndrome, Susceptibility to ⁵⁷ ¹³ ⁶

Pseudoexfoliation of the Lens ⁵⁷ ⁷⁵

Exfoliation Glaucoma ⁵⁷ ⁷⁵

Xfs ⁵⁷ ⁷⁵

Xfg ⁵⁷ ⁷⁵

Pseudoexfoliation Glaucoma; Pexg ⁵⁷

Pseudoexfoliation Syndrome; Pexs ⁵⁷

Pseudo-Exfoliation Syndrome ⁷⁵

Exfoliation Glaucoma; Xfg ⁵⁷

Exfoliative Syndrome ⁷⁵

Glaucoma Capsulare ⁷⁵

Pexg ⁵⁷

Pexs ⁵⁷

Pex ⁷⁵

Characteristics:

OMIM:

⁵⁷

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:

³²

exfoliation syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 177650

Disease Ontology ¹² DOID:13641

ICD9CM ³⁵ 365.52

MeSH ⁴⁴ D017889

SNOMED-CT ⁶⁸ 111514006 44219007

MedGen ⁴² C0206368

SNOMED-CT via HPO ⁶⁹ 263681008 23986001 10810001 more

UMLS ⁷³ C0206368

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Summaries for Exfoliation Syndrome

OMIM : ⁵⁷ 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)

MalaCards based summary : Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to open-angle glaucoma and central retinal vein occlusion. 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 Elastic fibre formation. The drugs Latanoprost and Timolol have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes, and related phenotypes are glaucoma and abnormality of the lens

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Pseudoexfoliation syndrome, often abbreviated as PEX and sometimes as PES or PXS, is an aging-related... more...

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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 70)

#	Related Disease	Score	Top Affiliating Genes
1	open-angle glaucoma	30.4	ELN LOXL1 MMP1
2	central retinal vein occlusion	29.7	LOXL1 MTHFR
3	retinal vein occlusion	29.5	LOXL1 MTHFR
4	pelvic organ prolapse	29.4	ELN LOX LOXL1 MMP1
5	vascular disease	29.0	APOE ELN MTHFR
6	aneurysm	28.8	ELN FBN1 LOX
7	aortic aneurysm	28.8	ELN FBN1 LOX
8	aortic aneurysm, familial abdominal, 1	28.2	APOE ELN FBN1 MMP1
9	zellweger syndrome	11.3
10	neonatal adrenoleukodystrophy	11.0
11	peroxisome biogenesis disorder 1b	10.9
12	peroxisomal disease	10.9
13	refsum disease, infantile form	10.9
14	peeling skin syndrome	10.9
15	lipoprotein glomerulopathy	10.3	APOE CLU
16	menkes disease	10.3	ELN LOX
17	rickets	10.3
18	cataract	10.2
19	cerebral atherosclerosis	10.2	APOE MTHFR
20	hypophosphatemic rickets, x-linked recessive	10.1
21	pseudoxanthoma elasticum-like papillary dermal elastolysis	10.1	ELN FBN1
22	late-onset focal dermal elastosis	10.1	ELN FBN1
23	familial abdominal aortic aneurysm	10.0	ELN FBN1
24	hypophosphatemic rickets, x-linked dominant	10.0
25	hypophosphatemia	10.0
26	peroxisomal biogenesis disorders	10.0
27	mid-dermal elastolysis	10.0	ELN FBN1
28	retinitis	10.0
29	aortic valve insufficiency	10.0	ELN FBN1
30	sorsby fundus dystrophy	10.0	ELN FBN1
31	supravalvular aortic stenosis	10.0	ELN FBN1
32	osteomalacia	9.9
33	glaucoma, primary open angle	9.9
34	ocular hypertension	9.9
35	varicose veins	9.9	ELN MMP1 MTHFR
36	migraine without aura	9.8	CACNA1A MTHFR
37	carotid stenosis	9.8	APOE MMP1 MTHFR
38	pneumothorax	9.8	ELN FBN1
39	epidermolysis bullosa dystrophica	9.8	FBN1 MMP1
40	aging	9.8
41	pulmonary emphysema	9.8	ELN MMP1
42	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	9.7
43	sensorineural hearing loss	9.7
44	aortic disease	9.7	APOE ELN FBN1
45	chronic actinic dermatitis	9.6	ELN FBN1 MMP1
46	aortic aneurysm, familial thoracic 1	9.6	ELN FBN1 MMP1
47	lens subluxation	9.6	FBN1 MTHFR
48	inguinal hernia	9.6	ELN FBN1 MMP1
49	collagen disease	9.6	ELN FBN1
50	mitral valve disease	9.6	FBN1 MMP1

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

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Symptoms & Phenotypes for Exfoliation Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

177650

Human phenotypes related to Exfoliation Syndrome:

³² (show all 8)

#	Description	HPO Source Accession
1	glaucoma ³²	HP:0000501
2	abnormality of the lens ³²	HP:0000517
3	lens subluxation ³²	HP:0001132
4	anisocoria ³²	HP:0009916
5	phakodonesis ³²	HP:0012629
6	pigment deposition in the trabecular meshwork ³²	HP:0012631
7	asymmetry of intraocular pressure ³²	HP:0012633
8	retinal vein occlusion ³²	HP:0012636

MGI Mouse Phenotypes related to Exfoliation Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.97	APOE CACNA1A CLU CNTNAP2 FBN1 LOX
2	homeostasis/metabolism	MP:0005376	9.97	APOE CACNA1A CLU FBN1 LOX LOXL1
3	integument	MP:0010771	9.86	APOE CACNA1A CNTNAP2 FBN1 LOX LOXL1
4	nervous system	MP:0003631	9.76	MTHFR APOE CACNA1A CLU CNTNAP2 FBN1
5	no phenotypic analysis	MP:0003012	9.35	APOE CACNA1A FBN1 LYST MTHFR
6	respiratory system	MP:0005388	9.1	FBN1 LOX LOXL1 LYST APOE CACNA1A

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Drugs & Therapeutics for Exfoliation Syndrome

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

(show top 50) (show all 85)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Latanoprost

Approved, Investigational

Phase 4,Not Applicable

130209-82-4

5282380 5311221

Timolol

Approved

Phase 4,Phase 3,Not Applicable

26839-75-8

33624 5478

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

5743

Ephedrine

Approved

Phase 4,Not Applicable

299-42-3

9294

Pseudoephedrine

Approved

Phase 4,Not Applicable

90-82-4

7028

Tobramycin

Approved, Investigational

Phase 4

32986-56-4

5496 36294

Bimatoprost

Approved, Investigational

Phase 4

155206-00-1

5311027

Heparin

Approved, Investigational

Phase 4

9005-49-6

772 46507594

Dorzolamide

Approved

Phase 4

120279-96-1

3154 5284549

Bromfenac

Approved July 1997

Phase 4

91714-94-2

60726

Maleic acid

Experimental

Phase 4

110-16-7

444266

Autonomic Agents

Phase 4,Not Applicable

Peripheral Nervous System Agents

Phase 4,Phase 3,Not Applicable

Adrenergic Agents

Phase 4,Phase 3,Not Applicable

Adrenergic Antagonists

Phase 4,Phase 3,Not Applicable

Adrenergic beta-Antagonists

Phase 4,Phase 3,Not Applicable

Anti-Arrhythmia Agents

Phase 4,Phase 3,Not Applicable

Antihypertensive Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Neurotransmitter Agents

Phase 4,Phase 3,Not Applicable

Analgesics

Phase 4,Not Applicable

Analgesics, Non-Narcotic

Phase 4,Not Applicable

Anti-Bacterial Agents

Phase 4

Antibiotics, Antitubercular

Phase 4

Antiemetics

Phase 4,Not Applicable

Anti-Infective Agents

Phase 4

Anti-Inflammatory Agents

Phase 4,Phase 2,Phase 3,Not Applicable

Anti-Inflammatory Agents, Non-Steroidal

Phase 4,Not Applicable

Antineoplastic Agents, Hormonal

Phase 4,Not Applicable

Antirheumatic Agents

Phase 4,Not Applicable

BB 1101

Phase 4

Dexamethasone acetate

Phase 4

1177-87-3

Gastrointestinal Agents

Phase 4,Not Applicable

glucocorticoids

Phase 4,Phase 2,Phase 3,Not Applicable

HIV Protease Inhibitors

Phase 4

Hormone Antagonists

Phase 4,Phase 2,Phase 3,Not Applicable

Hormones

Phase 4,Phase 2,Phase 3,Not Applicable

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 2,Phase 3,Not Applicable

Nasal Decongestants

Phase 4,Not Applicable

Ophthalmic Solutions

Phase 4,Phase 3,Phase 2,Not Applicable

Pharmaceutical Solutions

Phase 4,Phase 3,Phase 2,Not Applicable

protease inhibitors

Phase 4

Respiratory System Agents

Phase 4,Not Applicable

Tetrahydrozoline

Phase 4,Phase 3,Not Applicable

Vasoconstrictor Agents

Phase 4,Not Applicable

calcium heparin

Phase 4

Carbonic Anhydrase Inhibitors

Phase 4,Not Applicable

Pilocarpine

Approved, Investigational

Phase 3,Not Applicable

54-71-7, 92-13-7

5910

Apraclonidine

Approved

Phase 3

66711-21-5

2216

Dipivefrin

Approved

Phase 3

52365-63-6

3105

Travoprost

Approved

Phase 3,Not Applicable

157283-68-6

5282226

Interventional clinical trials:

(show all 47)

#	Name	Status	NCT ID	Phase	Drugs
1	Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery	Completed	NCT02137161	Phase 4	Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
2	24-Hour Intraocular Pressure Control With Bimatoprost/Timolol Versus Latanoprost as First Choice	Completed	NCT01448837	Phase 4	Bimatoprost/Timolol, 24-hour intraocular pressure monitoring;Latanoprost, 24-hour intraocular pressure monitoring
3	Intraocular Pressure Reduction With the Bimatoprost/Timolol Fixed Combination	Completed	NCT00941096	Phase 4	Bimatoprost and Bimatoprost/Timolol fixed combination.
4	Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties	Completed	NCT01767012	Phase 4
5	Assessing Cosopt Switch Patients	Completed	NCT00273442	Phase 4	timolol maleate;dorzolamide/timolol maleate fixed combination
6	Randomized Prospective Study of Selective Laser Trabeculoplasty (SLT) Versus Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension	Completed	NCT01126203	Phase 3
7	24-Hour Intraocular Pressure (IOP) Control With Travoprost/Timolol Fixed Combination	Completed	NCT00331240	Phase 3	travoprost/timolol fixed combination;placebo (artificial tears)
8	Will the Use of Triesence During Glaucoma Surgery Provide Lower Eye Pressure and Improve the Results of the Surgery?	Completed	NCT00853905	Phase 2, Phase 3	Triesence;balanced salt solution BSS
9	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
10	Efficacy of a Capsular Tension Ring in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome	Unknown status	NCT01455168
11	LOXL1 Polymorphism in Pseudoexfoliation Syndrome	Unknown status	NCT01515735
12	The International Collaborative Exfoliation Syndrome Treatment Study	Unknown status	NCT00804115	Not Applicable	Latanoprost with Pilocarpine vs Timolol or Cosopt
13	Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory Study	Unknown status	NCT02155478	Not Applicable
14	Contrast Sensitivity in Glaucoma	Unknown status	NCT00947869
15	Following Patients After Selective and Pascal Laser Trabeculoplasty for Treatment of Chronic Open-Angle Glaucoma	Unknown status	NCT02679482
16	Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery	Unknown status	NCT01778959	Not Applicable
17	Early Diagnosis in Glaucoma With GDxVcc	Completed	NCT01022281
18	Pseudoexfoliation Syndrome in Myopes	Completed	NCT01637740
19	Central Corneal Thickness in Glaucoma	Completed	NCT01023997
20	Micropulse Laser Trabeculoplasty as Adjunctive Treatment in Patients With Pseudoexfoliation Glaucoma	Completed	NCT03483402	Not Applicable
21	Optical Low Coherence Reflectometry Enables Preoperative Detection of Zonular Weakness in Pseudoexfoliation Syndrome	Completed	NCT01298895
22	Long-term Intraocular Lens (IOL) Decentration and Tilt in Eyes With Pseudoexfoliation Syndrome (PES) Following Cataract Surgery	Completed	NCT03453827
23	Plasma Levels of Matrix Metalloproteinases (MMPs) and Degree of DNA Fragmentation in Pseudoexfoliation (PEX) Glaucoma	Completed	NCT00327613
24	The Effect of Pseudoexfoliation on Choroidal Thickness in Open Angle Glaucoma	Completed	NCT03373942
25	Anti-inflammatory Therapy Following Selective Laser Trabeculoplasty	Completed	NCT00485108	Not Applicable	prednisolone 1%;ketorolac 0.5%;Artificial Tears (Methyl cellulose drops)
26	Adherence With Fixed Versus Unfixed Glaucoma Therapy	Completed	NCT01281020
27	Additivity Study: Additive Effect on Eye Pressure of Azopt and Alphagan P to Travatan	Completed	NCT00121147	Not Applicable	Travatan;Azopt;Alphagan P
28	The Diurnal and Nocturnal Effect of Simbrinza and Timolol on Intraocular Pressure and Ocular Perfusion Pressure	Completed	NCT02165631
29	Characteristics and Risk Ratios of Late Intraocular Lens (IOL) Complication	Completed	NCT02747667
30	AqueSys XEN 45 Glaucoma Implant in Refractory Glaucoma	Completed	NCT02036541	Not Applicable
31	Clinical Factors Associated Floppy Iris	Completed	NCT00472888
32	Pigment Dispersion Syndrome With and Without Glaucoma	Completed	NCT00001152
33	mRNA Expression in Lymphocytes of Glaucoma Patients	Completed	NCT00327509
34	Investigating the Genetic Basis of Pseudoexfoliation Syndrome and Angle-closure Glaucoma	Recruiting	NCT03423758
35	IOP Monitoring After Trabeculectomy Using iCare Home	Recruiting	NCT03445806
36	Monitoring of the IOP After SLT Using iCare Home	Recruiting	NCT03310788
37	Changes in Ocular Rigidity After Trabeculectomy in Patients With POAG	Recruiting	NCT02544646	Not Applicable
38	Early Diagnosis, Pathogenesis and Progression of Open Angle Glaucoma	Recruiting	NCT00494923
39	Anterior Segment Imaging With Ultrahigh-resolution OCT in Patients With Glaucoma and PEX - a Pilot Study	Recruiting	NCT02865473	Not Applicable	Pilocarpine
40	Measurement of Ocular Tensional Fluctuation by Triggerfish Lens Before and After Cataract Surgery in Patients With Exfoliative Glaucoma	Recruiting	NCT02658071
41	Natural History of IOL in Pseudo Exfoliation Syndrome	Active, not recruiting	NCT01255995
42	The Endothelial Count in Pxf	Not yet recruiting	NCT03265457
43	Efficacy and Safety of Lens Extraction in Patients With Pseudoexfoliation Glaucoma	Not yet recruiting	NCT03494465	Not Applicable	MEDICAL GLAUCOMA TREATMENT
44	Imaging Lens Deposits in Exfoliation Syndrome	Terminated	NCT02042703
45	Abdominal Aortic Aneurysms and Pseudoexfoliation Syndrome	Terminated	NCT00546013
46	Intracameral Mydriasis Versus Topical Mydriasis in Cataract Surgery	Terminated	NCT00690222	Not Applicable
47	Patch Graft Material Safety and Effectiveness in Covering Glaucoma Drainage Device Tube	Terminated	NCT01301378	Not Applicable

Search NIH Clinical Center for Exfoliation Syndrome

Cochrane evidence based reviews: exfoliation syndrome

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Genetic Tests for Exfoliation Syndrome

Genetic tests related to Exfoliation Syndrome:

#	Genetic test	Affiliating Genes
1	Pseudoexfoliation Glaucoma ²⁹	LOXL1

Sources

Anatomical Context for Exfoliation Syndrome

MalaCards organs/tissues related to Exfoliation Syndrome:

⁴¹

Eye, Endothelial, Testes, Retina

Sources

Publications for Exfoliation Syndrome

Articles related to Exfoliation Syndrome:

(show top 50) (show all 304)

#	Title	Authors	Year
1	Extracellular Matrix Regulation and Dysregulation in Exfoliation Syndrome. ( 29432335 )	Zenkel M.	2018
2	Laser Management of Glaucoma in Exfoliation Syndrome. ( 29419644 )	Sandhu S....Damji K.F.	2018
3	Recent Advances in the Surgical Management of Glaucoma in Exfoliation Syndrome. ( 29965903 )	Sayed M.S....Lee R.K.	2018
4	Mechanisms of Glaucoma in Exfoliation Syndrome. ( 29432334 )	Ozaki M.	2018
5	A Role for Clusterin in Exfoliation Syndrome and Exfoliation Glaucoma? ( 29965900 )	Wiggs J.L....Pasquale L.R.	2018
6	LOXL1 Polymorphisms: Genetic Biomarkers that Presage Environmental Determinants of Exfoliation Syndrome. ( 29965898 )	Pasquale L.R....Wiggs J.L.	2018
7	Genetics of Exfoliation Syndrome. ( 29965897 )	Aung T....Khor C.C.	2018
8	Update on Animal Models of Exfoliation Syndrome. ( 29419647 )	Anderson M.G....Fingert J.H.	2018
9	Growth Factors, Oxidative Damage and Inflammation in Exfoliation Syndrome. ( 29401156 )	BorrA!s T.	2018
10	Exfoliation syndrome in Northern Nigeria. ( 29440869 )	Idakwo U....Ritch R.	2018
11	Molecular Biology of Exfoliation Syndrome. ( 29419649 )	SchlAPtzer-Schrehardt U.	2018
12	Exfoliation Syndrome: A Historical Perspective. ( 29419643 )	Tarkkanen A.	2018
13	Ocular Findings in Exfoliation Syndrome. ( 29781834 )	Ritch R.	2018
14	Exfoliation Syndrome: A Disease of Autophagy and LOXL1 Proteopathy. ( 29547474 )	Bernstein A.M....Wolosin J.M.	2018
15	What have we learned about exfoliation syndrome since its discovery by John Lindberg 100 years ago? ( 29567789 )	Nazarali S....Damji K.F.	2018
16	Current Concepts in True Exfoliation Syndrome. ( 29419645 )	Teekhasaenee C.	2018
17	Vascular Dysfunction in Exfoliation Syndrome. ( 29419648 )	HollA^ G.	2018
18	A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines. ( 29450546 )	Leruez S....Reynier P.	2018
19	Histopathology of Exfoliation Syndrome. ( 29595556 )	KivelAo T.T.	2018
20	Utah Project on Exfoliation Syndrome (UPEXS): Insight Into Systemic Diseases Associated With Exfoliation Syndrome. ( 29965901 )	Wirostko B....Curtin K.	2018
21	Exfoliation Syndrome and Cataract Surgery. ( 29965904 )	Crandall A.S.	2018
22	Epidemiology of Exfoliation Syndrome. ( 29419641 )	Konstas A.G.P....Ringvold A.	2018
23	Medical Management of Glaucoma in Exfoliation Syndrome. ( 29965902 )	Michalik A.Z....Kaufman P.L.	2018
24	Nailfold capillary morphology in exfoliation syndrome. ( 28085140 )	Cousins C.C....Pasquale L.R.	2017
25	Genetic risk factors for glaucoma and exfoliation syndrome identified by genome-wide association studies. ( 28721823 )	Sakurada Y....Mabuchi F.	2017
26	Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. ( 28553957 )	Aung T....Khor C.C.	2017
27	Peripapillary Perfused Capillary Density in Exfoliation Syndrome and Exfoliation Glaucoma versus POAG and Healthy Controls: An OCTA Study. ( 29165935 )	Suwan Y....Ritch R.	2017
28	The Clinical Spectrum and a New Theory of Pathogenesis of True Exfoliation Syndrome. ( 27596291 )	Teekhasaenee C....Ritch R.	2016
29	Reproducibility of the water-drinking test in patients with exfoliation syndrome and exfoliative glaucoma. ( 27316559 )	A9zyol E....Karalezli A.	2016
30	The Prevalence of Exfoliation Syndrome in an Iranian Population Aged 45-69 Years. ( 27253831 )	Hashemi H....Fotouhi A.	2016
31	Evaluation of Retinal Nerve Fiber Layer and Ganglion Cell Complex Thickness in Unilateral Exfoliation Syndrome Using Optical Coherence Tomography. ( 26900827 )	Aydin D....Yuksel B.	2016
32	Efficacy of Topically Administered Rho-Kinase Inhibitor AR-12286 in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma. ( 27552517 )	Skaat A....Ritch R.	2016
33	CORRELATION BETWEEN MACULAR CHANGES IN EXFOLIATION SYNDROME AND EXFOLIATIVE GLAUCOMA. ( 27333723 )	Prskalo M.A. ....Prskalo Z.	2016
34	Systemic Associations of Exfoliation Syndrome. ( 26886119 )	Ritch R.	2016
35	Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology. ( 27845061 )	Aboobakar I.F....Allingham R.R.	2016
36	Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse : A Utah Project on Exfoliation Syndrome (UPEXS) Study. ( 27632406 )	Wirostko B.M....Allingham R.R.	2016
37	Comparison of retinal nerve fiber layer thickness in patients having pseudo exfoliation syndrome with healthy adults. ( 28083059 )	Yasmeen N....Qamar-Ul-Islam .	2016
38	The Relationship Between Choroidal Expansion and Intraocular Pressure Rise During the Water Drinking Test in Healthy Subjects and Patients With Exfoliation Syndrome. ( 26035419 )	Kocabeyoglu S....Irkec M.	2015
39	Investigation of phacoemulsification on exfoliation syndrome combined cataract with different nuclear hardness. ( 25684159 )	Jiang Y....Lu Y.	2015
40	The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis. ( 25709925 )	Ji Q.S....Zhong J.X.	2015
41	Exfoliation syndrome: a disease with an environmental component. ( 25594763 )	Dewundara S....Pasquale L.R.	2015
42	Clinical Signs and Characteristics of Exfoliation Syndrome and Exfoliative Glaucoma in Northern China. ( 26065350 )	Ren R....Ritch R.	2015
43	Intraocular Pressure Characteristics of Exfoliative Glaucoma and Exfoliation Syndrome as Determined With the Water Drinking Test. ( 25642816 )	Mocan M.C....Konstas A.G.	2015
44	Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. ( 26272660 )	Fan B.J....Wiggs J.L.	2015
45	Evaluation of Optical Low Coherence Reflectometry Parameters in Patients with Exfoliation Syndrome. ( 26060577 )	BeyazyA+ldA+z E....A9ztA1rk F.	2015
46	Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. ( 26307087 )	Hauser M.A....Allingham R.R.	2015
47	A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 25706626 )	Aung T....Khor C.C.	2015
48	Exfoliation Syndrome and Solar Exposure: New Epidemiological Insights Into the Pathophysiology of the Disease. ( 26322422 )	Jiwani A.Z....Pasquale L.R.	2015
49	Exfoliation syndrome: assembling the puzzle pieces. ( 26648185 )	Pasquale L.R....Ritch R.	2015
50	Hearing in older adults with exfoliation syndrome/exfoliation glaucoma or primary open-angle glaucoma. ( 26547142 )	Tryggvason G....Petersen H.	2015

Sources

Genes for Exfoliation Syndrome

Genes related to Exfoliation Syndrome (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LOXL1	Lysyl Oxidase Like 1	Protein Coding	743.76	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	19343041 18385788 18636115 (more) 18201684 19936304 19343041 19664108 18037624 19503743 18974306 18385063 18648524 18809397 20142848
2	LOXL1-AS1	LOXL1 Antisense RNA 1 Dysregulation of its expression by genetic risk variants plays a key role in XFS pathogenesis. Dysfunction Pattern: Expression	RNA Gene	171.64	Experimental evidence: Expression ³⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	26307087
3	ELN	Elastin	Protein Coding	35.38	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8030566 9878213 7777294
4	FBN1	Fibrillin 1	Protein Coding	23.47	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	9112993
5	MMP1	Matrix Metallopeptidase 1	Protein Coding	23.24	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	20038976 15665347
6	LYST	Lysosomal Trafficking Regulator	Protein Coding	22.49	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	LOX	Lysyl Oxidase	Protein Coding	22.35	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	CLU	Clusterin	Protein Coding	21.95	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	18806885 16639006
9	CNTNAP2	Contactin Associated Protein Like 2	Protein Coding	21.89	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	21.42	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	21.26	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	APOE	Apolipoprotein E	Protein Coding	20.83	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Exfoliation Syndrome

ClinVar genetic disease variations for Exfoliation Syndrome:

⁶

(show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LOXL1	NM_005576.3(LOXL1): c.422G> T (p.Arg141Leu)	single nucleotide variant	risk factor	rs1048661	GRCh37	Chromosome 15, 74219546: 74219546
2	LOXL1	NM_005576.3(LOXL1): c.422G> T (p.Arg141Leu)	single nucleotide variant	risk factor	rs1048661	GRCh38	Chromosome 15, 73927205: 73927205
3	LOXL1	NM_005576.3(LOXL1): c.458G> A (p.Gly153Asp)	single nucleotide variant	risk factor	rs3825942	GRCh37	Chromosome 15, 74219582: 74219582
4	LOXL1	NM_005576.3(LOXL1): c.458G> A (p.Gly153Asp)	single nucleotide variant	risk factor	rs3825942	GRCh38	Chromosome 15, 73927241: 73927241
5	LOXL1	NM_005576.3(LOXL1): c.1102+1976T> C	single nucleotide variant	risk factor	rs2165241	GRCh37	Chromosome 15, 74222202: 74222202
6	LOXL1	NM_005576.3(LOXL1): c.1102+1976T> C	single nucleotide variant	risk factor	rs2165241	GRCh38	Chromosome 15, 73929861: 73929861
7	LTBP2	NM_000428.2(LTBP2): c.1295C> T (p.Pro432Leu)	single nucleotide variant	Likely pathogenic	rs137854861	GRCh37	Chromosome 14, 75018994: 75018994
8	LTBP2	NM_000428.2(LTBP2): c.1295C> T (p.Pro432Leu)	single nucleotide variant	Likely pathogenic	rs137854861	GRCh38	Chromosome 14, 74552291: 74552291
9	LTBP2	NM_000428.2(LTBP2): c.1999A> C (p.Ile667Leu)	single nucleotide variant	Likely pathogenic	rs137854859	GRCh37	Chromosome 14, 74995814: 74995814
10	LTBP2	NM_000428.2(LTBP2): c.1999A> C (p.Ile667Leu)	single nucleotide variant	Likely pathogenic	rs137854859	GRCh38	Chromosome 14, 74529111: 74529111
11	LTBP2	NM_000428.2(LTBP2): c.4699A> G (p.Met1567Val)	single nucleotide variant	Likely pathogenic	rs137854864	GRCh37	Chromosome 14, 74970193: 74970193
12	LTBP2	NM_000428.2(LTBP2): c.4699A> G (p.Met1567Val)	single nucleotide variant	Likely pathogenic	rs137854864	GRCh38	Chromosome 14, 74503490: 74503490

Sources

Expression for Exfoliation Syndrome

Search GEO for disease gene expression data for Exfoliation Syndrome.

Sources

Pathways for Exfoliation Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	12.01	ELN FBN1 LOX LOXL1 MMP1
2	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	10.79	ELN FBN1 LOX LOXL1
3	Cell adhesion_Cell-matrix glycoconjugates ²²	10.75	ELN MMP1

Sources

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 region	GO:0005576	9.7	APOE CLU ELN FBN1 LOX LOXL1
2	extracellular matrix	GO:0031012	9.1	APOE CLU ELN FBN1 LOXL1 MMP1
3	amyloid-beta complex	GO:0106003	8.96	APOE CLU

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular protein metabolic process	GO:0044267	9.67	APOE FBN1 MMP1
2	blood circulation	GO:0008015	9.52	ELN MTHFR
3	collagen fibril organization	GO:0030199	9.51	LOX LOXL1
4	extracellular matrix disassembly	GO:0022617	9.5	ELN FBN1 MMP1
5	transmission of nerve impulse	GO:0019226	9.48	CACNA1A CNTNAP2
6	aorta development	GO:0035904	9.46	LOX LOXL1
7	extracellular matrix organization	GO:0030198	9.46	ELN FBN1 LOX LOXL1
8	reverse cholesterol transport	GO:0043691	9.43	APOE CLU
9	elastic fiber assembly	GO:0048251	9.4	LOX LOXL1
10	negative regulation of amyloid-beta formation	GO:1902430	9.37	APOE CLU
11	protein import	GO:0017038	9.26	APOE CLU
12	positive regulation of amyloid fibril formation	GO:1905908	8.96	APOE CLU
13	regulation of amyloid-beta clearance	GO:1900221	8.62	APOE CLU

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex binding	GO:0044877	9.5	CLU FBN1 MTHFR
2	low-density lipoprotein particle receptor binding	GO:0050750	9.26	APOE CLU
3	tau protein binding	GO:0048156	9.16	APOE CLU
4	protein-lysine 6-oxidase activity	GO:0004720	8.96	LOX LOXL1
5	oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor	GO:0016641	8.62	LOX LOXL1

Sources

Sources for Exfoliation Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia