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Literature DB >> 19240540

Genetics of pseudoexfoliation syndrome.

Abstract

PURPOSE OF REVIEW: Pseudoexfoliation syndrome (XFS) is a late-onset and complex disorder that is strongly associated with the development of glaucoma. The purpose of this review is to discuss the inheritance patterns and recent genetic advances in the study of this disorder. RECENT
FINDINGS: XFS has a strong familial association and recently, the lysyl oxidase-like 1 gene has been strongly associated with this disorder. This gene is involved in the synthesis and maintenance of elastic fibers and therefore has a strong biological rationale for being involved in this disorder. However, the exact relationship between lysyl oxidase-like 1 polymorphisms and the development of XFS has not been elucidated. Also, the value of genetic testing for this disorder has not been validated.
SUMMARY: XFS is an important risk factor for glaucoma and lysyl oxidase-like 1 polymorphisms are strongly associated with XFS. The mechanisms behind glaucoma development and the value of genetic testing are not clear and further study is needed.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2009 PMID： 19240540 PMCID： PMC2674400 DOI： 10.1097/ICU.0b013e328320d86a

Source DB: PubMed Journal: Curr Opin Ophthalmol ISSN： 1040-8738 Impact factor: 3.761

42 in total

1. Prevalence of pseudoexfoliation of the lens in Finns, Lapps, Icelanders, Eskimos, and Russians.

Authors: H Forsius
Journal: Trans Ophthalmol Soc U K Date: 1979-07

2. Exfoliation syndrome.

Authors: W E Layden; R N Shaffer
Journal: Am J Ophthalmol Date: 1974-11 Impact factor: 5.258

3. Capsular exfoliation syndrome.

Authors: G C Sood; B K Sofat; S K Mehrotra; R D Chandel
Journal: Br J Ophthalmol Date: 1973-02 Impact factor: 4.638

4. Psuedoexfoliation in ophthalmic practice.

Authors: O F Klouman
Journal: Acta Ophthalmol (Copenh) Date: 1967

5. Corticosteroid-induced ocular hypertension in pseudo-exfoliation of lens capsule.

Authors: W E Gillies
Journal: Am J Ophthalmol Date: 1970-07 Impact factor: 5.258

6. The Framingham Eye Study monograph: An ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975.

Authors: H M Leibowitz; D E Krueger; L R Maunder; R C Milton; M M Kini; H A Kahn; R J Nickerson; J Pool; T L Colton; J P Ganley; J I Loewenstein; T R Dawber
Journal: Surv Ophthalmol Date: 1980 May-Jun Impact factor: 6.048

7. Topical corticosteroids and non-glaucomatous pseudoexfoliation.

Authors: A Tarkkanen; A Horsmanheimo
Journal: Acta Ophthalmol (Copenh) Date: 1966

8. Family study of pseudoexfoliation and glaucoma.

Authors: A Tarkkanen; H Voipio; P Koivusalo
Journal: Acta Ophthalmol (Copenh) Date: 1965

9. John G. Lindberg and the discovery of exfoliation syndrome.

Authors: Ahti Tarkkanen; Tero Kivelä
Journal: Acta Ophthalmol Scand Date: 2002-04

10. Exfoliation glaucoma: a quantitative perfusion and ultrastructural study.

Authors: T M Richardson; D L Epstein
Journal: Ophthalmology Date: 1981-09 Impact factor: 12.079

23 in total

1. Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma.

Authors: Michelle D Drewry; Pratap Challa; John G Kuchtey; Iris Navarro; Inas Helwa; Yanzhong Hu; Hongmei Mu; W Daniel Stamer; Rachel W Kuchtey; Yutao Liu
Journal: Hum Mol Genet Date: 2018-04-01 Impact factor: 6.150

Review 2. [New pathogenetic insights into pseudoexfoliation syndrome/glaucoma. Therapeutically relevant?].

Authors: U Schlötzer-Schrehardt
Journal: Ophthalmologe Date: 2012-10 Impact factor: 1.059

3. Geographic and climatic factors associated with exfoliation syndrome.

Authors: Joshua D Stein; Louis R Pasquale; Nidhi Talwar; Denise S Kim; David M Reed; Bin Nan; Jae Hee Kang; Janey L Wiggs; Julia E Richards
Journal: Arch Ophthalmol Date: 2011-08

4. Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes.

Authors: Colleen M Trantow; Adam Hedberg-Buenz; Sachiyo Iwashita; Steven A Moore; Michael G Anderson
Journal: PLoS Genet Date: 2010-07-01 Impact factor: 5.917

Review 5. Exfoliation Syndrome and Solar Exposure: New Epidemiological Insights Into the Pathophysiology of the Disease.

Authors: Aliya Z Jiwani; Louis R Pasquale
Journal: Int Ophthalmol Clin Date: 2015

6. Review: The role of LOXL1 in exfoliation syndrome/glaucoma.

Authors: Benjamin T Whigham; R Rand Allingham
Journal: Saudi J Ophthalmol Date: 2011-07-27

7. The Relationship between caffeine and coffee consumption and exfoliation glaucoma or glaucoma suspect: a prospective study in two cohorts.

Authors: Louis R Pasquale; Janey L Wiggs; Walter C Willett; Jae H Kang
Journal: Invest Ophthalmol Vis Sci Date: 2012-09-21 Impact factor: 4.799

8. Lack of association of three primary open-angle glaucoma-susceptible loci with primary glaucomas in an Indian population.

Authors: Kollu N Rao; Inderjeet Kaur; Subhabrata Chakrabarti
Journal: Proc Natl Acad Sci U S A Date: 2009-10-21 Impact factor: 11.205

9. Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma.

Authors: Evangelia E Tsironi; Maria Pefkianaki; Aspasia Tsezou; Maria G Kotoula; Efthimios Dardiotis; Pavlina Almpanidou; Afroditi A Papathanasiou; Paraskevi Rodopoulou; Dimitrios Z Chatzoulis; Georgios M Hadjigeorgiou
Journal: Mol Vis Date: 2009-12-25 Impact factor: 2.367

10. Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population.

Authors: Ling Chen; Liyun Jia; Ningli Wang; Guangxian Tang; Chun Zhang; Sujie Fan; Wenru Liu; Hailin Meng; Wotan Zeng; Ningpu Liu; Huaizhou Wang; Hongyan Jia
Journal: Mol Vis Date: 2009-11-14 Impact factor: 2.367