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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.
Anisocoria
MedGen UID:
1944
Concept ID:
C0003079
Finding
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
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.
Lens subluxation
MedGen UID:
9718
Concept ID:
C0023316
Disease or Syndrome
Partial dislocation of the lens of the eye.
Mydriasis
MedGen UID:
10145
Concept ID:
C0026961
Sign or Symptom
Abnormal dilatation of the iris.
Retinal vein occlusion
MedGen UID:
19763
Concept ID:
C0035328
Disease or Syndrome
Blockage of the retinal vein.
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.
Abnormal lens morphology
MedGen UID:
892382
Concept ID:
C0549651
Anatomical Abnormality
An abnormality of the lens.
Phakodonesis
MedGen UID:
754414
Concept ID:
C2939415
Disease or Syndrome
Tremulousness (trembling) of the lens of the eye.
Pigment deposition in the trabecular meshwork
MedGen UID:
812229
Concept ID:
C3805899
Finding
Accumulation of abnormal amounts of pigment within the trabecular meshwork.
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.
Iris hypoperfusion
MedGen UID:
868418
Concept ID:
C4022812
Finding
Reduction in the amount of blood flow to the iris.
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.

Term Hierarchy

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

Professional guidelines

PubMed

Pose-Bazarra S, Azuara-Blanco A
Curr Opin Ophthalmol 2018 Jan;29(1):96-99. doi: 10.1097/ICU.0000000000000435. PMID: 28937506
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
Kornmann HL, Gedde SJ
Int Ophthalmol Clin 2014 Fall;54(4):71-83. doi: 10.1097/IIO.0000000000000041. PMID: 25171645

Recent clinical studies

Etiology

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
Gasińska K, Czop M, Kosior-Jarecka E, Wróbel-Dudzińska D, Kocki J, Żarnowski T
Cells 2022 Sep 2;11(17) doi: 10.3390/cells11172738. PMID: 36078146Free PMC Article
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
Padhy B, Alone DP
J Biosci 2021;46 PMID: 34785624
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

Kapuganti RS, Alone DP
Mol Aspects Med 2023 Dec;94:101214. Epub 2023 Sep 18 doi: 10.1016/j.mam.2023.101214. PMID: 37729850
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
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
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
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

Dai J, Suo L, Xian H, Pan Z, Zhang C
Invest Ophthalmol Vis Sci 2023 Oct 3;64(13):4. doi: 10.1167/iovs.64.13.4. PMID: 37788000Free PMC Article
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
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
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
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

Prognosis

Lachovská S, Kristian P, Krowicka
Cesk Slov Oftalmol 2022 Spring;78(2):56-62. doi: 10.31348/2022/8. PMID: 35477245
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
Aghsaei Fard M, Safizadeh M, Shaabani A, Kafieh R, Hojati S, Afzali M, Suwan Y, Ritch R, Moghimi S
Am J Ophthalmol 2021 Apr;224:178-184. Epub 2020 Dec 10 doi: 10.1016/j.ajo.2020.12.002. PMID: 33309810
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
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

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
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
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
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
Vazquez LE, Lee RK
Int Ophthalmol Clin 2014 Fall;54(4):1-13. doi: 10.1097/IIO.0000000000000047. PMID: 25171640Free PMC Article

Recent systematic reviews

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
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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