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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ftagakhanuniv:oai:ecommons.aku.edu:pakistan_fhs_mc_ophthalmol-1130 2023-08-27T04:10:12+02:00 Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation Damji, Karim F Bains, Harkaran S Stefansson, Einar Loftsdottir, Margaret Sverrisson, Thordur Thorgeirsson, Eirikur Jonasson, Fridbert Gottfredsdottir, Maria Allingham, R Rand 1998-12-01T08:00:00Z https://ecommons.aku.edu/pakistan_fhs_mc_ophthalmol/131 https://www.tandfonline.com/doi/abs/10.1076/opge.19.4.175.2310 unknown eCommons@AKU https://ecommons.aku.edu/pakistan_fhs_mc_ophthalmol/131 https://www.tandfonline.com/doi/abs/10.1076/opge.19.4.175.2310 Department of Ophthalmology & Visual Sciences Pseudoexfoliation syndrome Open-angle glaucoma Genetics Pseudoexfoliation glaucoma Pathogenesis Eye Diseases text 1998 ftagakhanuniv 2023-08-07T06:44:27Z 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. Text Iceland The Aga Khan University: eCommons@AKU Canada |
institution |
Open Polar |
collection |
The Aga Khan University: eCommons@AKU |
op_collection_id |
ftagakhanuniv |
language |
unknown |
topic |
Pseudoexfoliation syndrome Open-angle glaucoma Genetics Pseudoexfoliation glaucoma Pathogenesis Eye Diseases |
spellingShingle |
Pseudoexfoliation syndrome Open-angle glaucoma Genetics Pseudoexfoliation glaucoma Pathogenesis Eye Diseases Damji, Karim F Bains, Harkaran S Stefansson, Einar Loftsdottir, Margaret Sverrisson, Thordur Thorgeirsson, Eirikur Jonasson, Fridbert Gottfredsdottir, Maria Allingham, R Rand Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation |
topic_facet |
Pseudoexfoliation syndrome Open-angle glaucoma Genetics Pseudoexfoliation glaucoma Pathogenesis Eye Diseases |
description |
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. |
format |
Text |
author |
Damji, Karim F Bains, Harkaran S Stefansson, Einar Loftsdottir, Margaret Sverrisson, Thordur Thorgeirsson, Eirikur Jonasson, Fridbert Gottfredsdottir, Maria Allingham, R Rand |
author_facet |
Damji, Karim F Bains, Harkaran S Stefansson, Einar Loftsdottir, Margaret Sverrisson, Thordur Thorgeirsson, Eirikur Jonasson, Fridbert Gottfredsdottir, Maria Allingham, R Rand |
author_sort |
Damji, Karim F |
title |
Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation |
title_short |
Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation |
title_full |
Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation |
title_fullStr |
Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation |
title_full_unstemmed |
Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation |
title_sort |
is pseudoexfoliation syndrome inherited? a review of genetic and nongenetic factors and a new observation |
publisher |
eCommons@AKU |
publishDate |
1998 |
url |
https://ecommons.aku.edu/pakistan_fhs_mc_ophthalmol/131 https://www.tandfonline.com/doi/abs/10.1076/opge.19.4.175.2310 |
geographic |
Canada |
geographic_facet |
Canada |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Department of Ophthalmology & Visual Sciences |
op_relation |
https://ecommons.aku.edu/pakistan_fhs_mc_ophthalmol/131 https://www.tandfonline.com/doi/abs/10.1076/opge.19.4.175.2310 |
_version_ |
1775352062255562752 |