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Pseudoexfoliation glaucoma(XFS)

MedGen UID:
60133
•Concept ID:
C0206368
•
Disease or Syndrome
Synonyms: EXFOLIATION GLAUCOMA; Exfoliation Syndrome; PSEUDOEXFOLIATION OF THE LENS; PSEUDOEXFOLIATION SYNDROME; XFS
SNOMED CT: Glaucoma capsulare (111514006); Secondary open-angle glaucoma with pseudoexfoliation (111514006); Pseudoexfoliation glaucoma (111514006); Pseudoexfoliation syndrome (44219007)
 
Gene (location): LOXL1 (15q24.1)
 
Monarch Initiative: MONDO:0008327
OMIM®: 177650
Orphanet: ORPHA529819

Definition

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). [from OMIM]

Clinical features

From HPO
Rigidity
MedGen UID:
7752
•Concept ID:
C0026837
•
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
See: Feature record | Search on this feature
Anisocoria
MedGen UID:
1944
•Concept ID:
C0003079
•
Finding
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
See: Feature record | Search on this feature
Glaucoma
MedGen UID:
42224
•Concept ID:
C0017601
•
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
See: Feature record | Search on this feature
Lens subluxation
MedGen UID:
9718
•Concept ID:
C0023316
•
Disease or Syndrome
Partial dislocation of the lens of the eye.
See: Feature record | Search on this feature
Mydriasis
MedGen UID:
10145
•Concept ID:
C0026961
•
Sign or Symptom
Abnormal dilatation of the iris.
See: Feature record | Search on this feature
Retinal vein occlusion
MedGen UID:
19763
•Concept ID:
C0035328
•
Disease or Syndrome
Blockage of the retinal vein.
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
Abnormal lens morphology
MedGen UID:
892382
•Concept ID:
C0549651
•
Anatomical Abnormality
An abnormality of the lens.
See: Feature record | Search on this feature
Phakodonesis
MedGen UID:
754414
•Concept ID:
C2939415
•
Disease or Syndrome
Tremulousness (trembling) of the lens of the eye.
See: Feature record | Search on this feature
Pigment deposition in the trabecular meshwork
MedGen UID:
812229
•Concept ID:
C3805899
•
Finding
Accumulation of abnormal amounts of pigment within the trabecular meshwork.
See: Feature record | Search on this feature
Asymmetry of intraocular pressure
MedGen UID:
812231
•Concept ID:
C3805901
•
Finding
A difference in the amount of intraocular pressure in the right and left eye.
See: Feature record | Search on this feature
Iris hypoperfusion
MedGen UID:
868418
•Concept ID:
C4022812
•
Finding
Reduction in the amount of blood flow to the iris.
See: Feature record | Search on this feature
Pseudoexfoliation
MedGen UID:
868421
•Concept ID:
C4022815
•
Pathologic Function
Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPseudoexfoliation glaucoma

Professional guidelines

PubMed

Role of lens extraction and laser peripheral iridotomy in treatment of glaucoma.
Pose-Bazarra S, Azuara-Blanco A
Curr Opin Ophthalmol 2018 Jan;29(1):96-99. doi: 10.1097/ICU.0000000000000435. PMID: 28937506
A Novel Uveolymphatic Drainage Pathway-Possible New Target for Glaucoma Treatment.
Tomczyk-Socha M, Turno-Kręcicka A
Lymphat Res Biol 2017 Dec;15(4):360-363. Epub 2017 Oct 27 doi: 10.1089/lrb.2017.0019. PMID: 29077522
Surgical management of pseudoexfoliation glaucoma.
Kornmann HL, Gedde SJ
Int Ophthalmol Clin 2014 Fall;54(4):71-83. doi: 10.1097/IIO.0000000000000041. PMID: 25171645

Recent clinical studies

Etiology

Pseudoexfoliation Glaucoma: Clinical Presentation and Therapeutic Options.
Yüksel N, Yılmaz Tuğan B
Turk J Ophthalmol 2023 Aug 19;53(4):247-256. doi: 10.4274/tjo.galenos.2023.76300. PMID: 37602651Free PMC Article
Smell Sensitivity in Primary Open-angle Glaucoma and Pseudoexfoliation Glaucoma.
Dikmetas O, Aygün O, Kocabeyoglu S, Süslü AE, Kilic B, Karakaya J, Iester M, Irkec M
J Glaucoma 2022 May 1;31(5):300-304. Epub 2022 Feb 18 doi: 10.1097/IJG.0000000000001999. PMID: 35180155
Is pseudoexfoliation glaucoma a neurodegenerative disorder?
Padhy B, Alone DP
J Biosci 2021;46 PMID: 34785624
Surgical and laser interventions for pseudoexfoliation glaucoma systematic review of randomized controlled trials.
Pose-Bazarra S, López-Valladares MJ, López-de-Ullibarri I, Azuara-Blanco A
Eye (Lond) 2021 Jun;35(6):1551-1561. Epub 2021 Feb 9 doi: 10.1038/s41433-021-01424-1. PMID: 33564134Free PMC Article
Trabectome success factors.
Okeke CO, Miller-Ellis E, Rojas M; Trabectome Study Group
Medicine (Baltimore) 2017 Jun;96(24):e7061. doi: 10.1097/MD.0000000000007061. PMID: 28614223Free PMC Article

Diagnosis

Pseudoexfoliation Glaucoma: Clinical Presentation and Therapeutic Options.
Yüksel N, Yılmaz Tuğan B
Turk J Ophthalmol 2023 Aug 19;53(4):247-256. doi: 10.4274/tjo.galenos.2023.76300. PMID: 37602651Free PMC Article
Smell Sensitivity in Primary Open-angle Glaucoma and Pseudoexfoliation Glaucoma.
Dikmetas O, Aygün O, Kocabeyoglu S, Süslü AE, Kilic B, Karakaya J, Iester M, Irkec M
J Glaucoma 2022 May 1;31(5):300-304. Epub 2022 Feb 18 doi: 10.1097/IJG.0000000000001999. PMID: 35180155
Surgical and laser interventions for pseudoexfoliation glaucoma systematic review of randomized controlled trials.
Pose-Bazarra S, López-Valladares MJ, López-de-Ullibarri I, Azuara-Blanco A
Eye (Lond) 2021 Jun;35(6):1551-1561. Epub 2021 Feb 9 doi: 10.1038/s41433-021-01424-1. PMID: 33564134Free PMC Article
Static and dynamic pupil characteristics in pseudoexfoliation syndrome and glaucoma.
Tekin K, Kiziltoprak H, Sekeroglu MA, Yetkin E, Bayraktar S, Yilmazbas P
Clin Exp Optom 2020 May;103(3):332-338. Epub 2019 Jul 30 doi: 10.1111/cxo.12945. PMID: 31364197
Trabectome success factors.
Okeke CO, Miller-Ellis E, Rojas M; Trabectome Study Group
Medicine (Baltimore) 2017 Jun;96(24):e7061. doi: 10.1097/MD.0000000000007061. PMID: 28614223Free PMC Article

Therapy

Macular pigment optical density change analysis in primary open-angle glaucoma and pseudoexfoliation glaucoma.
Zeki Fikret C, Ucgun NI
Int Ophthalmol 2021 Jun;41(6):2235-2240. Epub 2021 Mar 23 doi: 10.1007/s10792-021-01784-3. PMID: 33759069
Surgical and laser interventions for pseudoexfoliation glaucoma systematic review of randomized controlled trials.
Pose-Bazarra S, López-Valladares MJ, López-de-Ullibarri I, Azuara-Blanco A
Eye (Lond) 2021 Jun;35(6):1551-1561. Epub 2021 Feb 9 doi: 10.1038/s41433-021-01424-1. PMID: 33564134Free PMC Article
The role of phacoemulsification in glaucoma therapy: A systematic review and meta-analysis.
Masis M, Mineault PJ, Phan E, Lin SC
Surv Ophthalmol 2018 Sep-Oct;63(5):700-710. Epub 2017 Sep 6 doi: 10.1016/j.survophthal.2017.08.006. PMID: 28887138
The Relationship Between Helicobacter pylori Infection and Open-Angle Glaucoma: A Meta-Analysis.
Zeng J, Liu H, Liu X, Ding C
Invest Ophthalmol Vis Sci 2015 Aug;56(9):5238-45. doi: 10.1167/iovs.15-17059. PMID: 26258610
Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation.
Damji KF, Bains HS, Stefansson E, Loftsdottir M, Sverrisson T, Thorgeirsson E, Jonasson F, Gottfredsdottir M, Allingham RR
Ophthalmic Genet 1998 Dec;19(4):175-85. doi: 10.1076/opge.19.4.175.2310. PMID: 9895242

Prognosis

The natural history of untreated ocular hypertension and glaucoma.
Lauwers A, Barbosa Breda J, Stalmans I
Surv Ophthalmol 2023 May-Jun;68(3):388-424. Epub 2022 Dec 21 doi: 10.1016/j.survophthal.2022.12.001. PMID: 36563707
Association of Epiretinal Membrane With Pseudoexfoliation Glaucoma and Long-term Factors Affecting Visual Function.
Lee JY, Sung KR, Kim YJ
J Glaucoma 2022 Jul 1;31(7):595-601. Epub 2022 Mar 29 doi: 10.1097/IJG.0000000000002024. PMID: 35353789
Role of lens extraction and laser peripheral iridotomy in treatment of glaucoma.
Pose-Bazarra S, Azuara-Blanco A
Curr Opin Ophthalmol 2018 Jan;29(1):96-99. doi: 10.1097/ICU.0000000000000435. PMID: 28937506
Trabectome success factors.
Okeke CO, Miller-Ellis E, Rojas M; Trabectome Study Group
Medicine (Baltimore) 2017 Jun;96(24):e7061. doi: 10.1097/MD.0000000000007061. PMID: 28614223Free PMC Article
Prevalence and Prognosis of Pseudoexfoliation Glaucoma in Western India.
Rao V, Doctor M, Rao G
Asia Pac J Ophthalmol (Phila) 2015 Mar-Apr;4(2):121-7. doi: 10.1097/APO.0b013e3182a0af43. PMID: 26065357

Clinical prediction guides

Pseudoexfoliation Glaucoma: Clinical Presentation and Therapeutic Options.
Yüksel N, Yılmaz Tuğan B
Turk J Ophthalmol 2023 Aug 19;53(4):247-256. doi: 10.4274/tjo.galenos.2023.76300. PMID: 37602651Free PMC Article
The natural history of untreated ocular hypertension and glaucoma.
Lauwers A, Barbosa Breda J, Stalmans I
Surv Ophthalmol 2023 May-Jun;68(3):388-424. Epub 2022 Dec 21 doi: 10.1016/j.survophthal.2022.12.001. PMID: 36563707
Smell Sensitivity in Primary Open-angle Glaucoma and Pseudoexfoliation Glaucoma.
Dikmetas O, Aygün O, Kocabeyoglu S, Süslü AE, Kilic B, Karakaya J, Iester M, Irkec M
J Glaucoma 2022 May 1;31(5):300-304. Epub 2022 Feb 18 doi: 10.1097/IJG.0000000000001999. PMID: 35180155
Refractive Outcomes of Uneventful Cataract Surgery in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.
Tekcan H, Mangan MS, Imamoglu S, Alpogan O
Korean J Ophthalmol 2022 Jun;36(3):226-235. Epub 2022 Jan 24 doi: 10.3341/kjo.2021.0183. PMID: 35067015Free PMC Article
Lysyl Oxidase Like 1: Biological roles and regulation.
Greene AG, Eivers SB, Dervan EWJ, O'Brien CJ, Wallace DM
Exp Eye Res 2020 Apr;193:107975. Epub 2020 Feb 15 doi: 10.1016/j.exer.2020.107975. PMID: 32070696

Recent systematic reviews

Surgical and laser interventions for pseudoexfoliation glaucoma systematic review of randomized controlled trials.
Pose-Bazarra S, López-Valladares MJ, López-de-Ullibarri I, Azuara-Blanco A
Eye (Lond) 2021 Jun;35(6):1551-1561. Epub 2021 Feb 9 doi: 10.1038/s41433-021-01424-1. PMID: 33564134Free PMC Article
The role of phacoemulsification in glaucoma therapy: A systematic review and meta-analysis.
Masis M, Mineault PJ, Phan E, Lin SC
Surv Ophthalmol 2018 Sep-Oct;63(5):700-710. Epub 2017 Sep 6 doi: 10.1016/j.survophthal.2017.08.006. PMID: 28887138

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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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