Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation

2.50
Hdl Handle:
http://hdl.handle.net/2336/48999
Title:
Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation
Authors:
Damji, K F; Bains, H S; Stefansson, E; Loftsdottir, M; Sverrisson, T; Thorgeirsson, E; Jonasson, F; Gottfredsdottir, M; Allingham, R R
Citation:
Ophthalmic Genet. 1998, 19(4):175-85
Issue Date:
1-Dec-1998
Abstract:
Pseudoexfoliation (PEX) syndrome is the commonest identifiable cause of open-angle glaucoma worldwide. PEX is characterized clinically by small whitish deposits of fibrillar-granular material in the anterior segment of the eye. Despite its prevalence and potential for ophthalmic morbidity, surprisingly little is known about the etiology and pathogenesis of PEX. This article reviews the literature and presents evidence regarding genetic and nongenetic arguments for the etiology of pseudoexfoliation. Lines of evidence that support a genetic basis for PEX include transmission in two-generation families, twin studies, an increased risk of PEX in relatives of affected patients, and HLA studies. Nearly all pedigrees in the literature, and our own experience with PEX families in Iceland and Canada, suggest maternal transmission, raising the possibilities of mitochondrial inheritance, X-linked inheritance, and autosomal inheritance with genomic imprinting. A number of nongenetic factors have also been evaluated for their possible implication in the development of PEX. These include ultraviolet light, autoimmunity, slow virus infection, and trauma. It is possible that a combination of genetic and nongenetic factors may be involved in the etiology and pathogenesis of PEX, i.e. it may be a multifactorial disorder. Further studies with larger numbers of patients are needed to delineate more clearly the contribution of genetic (nuclear DNA, mitochondrial DNA or both) and nongenetic factors to the development of pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Description:
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Full metadata record

DC FieldValue Language
dc.contributor.authorDamji, K F-
dc.contributor.authorBains, H S-
dc.contributor.authorStefansson, E-
dc.contributor.authorLoftsdottir, M-
dc.contributor.authorSverrisson, T-
dc.contributor.authorThorgeirsson, E-
dc.contributor.authorJonasson, F-
dc.contributor.authorGottfredsdottir, M-
dc.contributor.authorAllingham, R R-
dc.date.accessioned2009-02-12T14:51:56Z-
dc.date.available2009-02-12T14:51:56Z-
dc.date.issued1998-12-01-
dc.date.submitted2009-02-12-
dc.identifier.citationOphthalmic Genet. 1998, 19(4):175-85en
dc.identifier.issn1381-6810-
dc.identifier.pmid9895242-
dc.identifier.urihttp://hdl.handle.net/2336/48999-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractPseudoexfoliation (PEX) syndrome is the commonest identifiable cause of open-angle glaucoma worldwide. PEX is characterized clinically by small whitish deposits of fibrillar-granular material in the anterior segment of the eye. Despite its prevalence and potential for ophthalmic morbidity, surprisingly little is known about the etiology and pathogenesis of PEX. This article reviews the literature and presents evidence regarding genetic and nongenetic arguments for the etiology of pseudoexfoliation. Lines of evidence that support a genetic basis for PEX include transmission in two-generation families, twin studies, an increased risk of PEX in relatives of affected patients, and HLA studies. Nearly all pedigrees in the literature, and our own experience with PEX families in Iceland and Canada, suggest maternal transmission, raising the possibilities of mitochondrial inheritance, X-linked inheritance, and autosomal inheritance with genomic imprinting. A number of nongenetic factors have also been evaluated for their possible implication in the development of PEX. These include ultraviolet light, autoimmunity, slow virus infection, and trauma. It is possible that a combination of genetic and nongenetic factors may be involved in the etiology and pathogenesis of PEX, i.e. it may be a multifactorial disorder. Further studies with larger numbers of patients are needed to delineate more clearly the contribution of genetic (nuclear DNA, mitochondrial DNA or both) and nongenetic factors to the development of pseudoexfoliation syndrome and pseudoexfoliation glaucoma.en
dc.language.isoenen
dc.publisherTaylor & Francisen
dc.relation.urlhttp://search.ebscohost.com/login.aspx?direct=true&db=aph&AN=5306530&site=ehost-liveen
dc.subject.meshAutoimmunityen
dc.subject.meshExfoliation Syndromeen
dc.subject.meshEye Injuriesen
dc.subject.meshHumansen
dc.subject.meshPedigreeen
dc.subject.meshUltraviolet Raysen
dc.subject.meshVirus Diseasesen
dc.titleIs pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observationen
dc.typeArticleen
dc.contributor.departmentUniversity of Ottawa Eye Institute, Ottawa Hospital, Ontario, Canada. kdamji@ogh.on.caen
dc.identifier.journalOphthalmic geneticsen

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