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

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, surprisin...

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Bibliographic Details
Main Authors: Damji, Karim F, Bains, Harkaran S, Stefansson, Einar, Loftsdottir, Margaret, Sverrisson, Thordur, Thorgeirsson, Eirikur, Jonasson, Fridbert, Gottfredsdottir, Maria, Allingham, R Rand
Format: Text
Language:unknown
Published: eCommons@AKU 1998
Subjects:
Pseudoexfoliation syndrome
Open-angle glaucoma
Genetics
Pseudoexfoliation glaucoma
Pathogenesis
Eye Diseases
Canada
Iceland
Online Access:https://ecommons.aku.edu/pakistan_fhs_mc_ophthalmol/131
https://www.tandfonline.com/doi/abs/10.1076/opge.19.4.175.2310
Description
Summary: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.

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