Samantha Dewundara1, Louis R Pasquale. 1. aDepartment of Ophthalmology bHarvard Medical School, Massachusetts Eye and Ear cDivision of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Abstract
PURPOSE OF REVIEW: Exfoliation syndrome (XFS), the most common cause of secondary open angle glaucoma, is associated with significant ocular morbidity. Recent studies have pointed toward environmental components that may alter the risk of XFS development. This review focuses on the recent studies elucidating the role of environmental factors that play a role in the development of exfoliation syndrome. RECENT FINDINGS: In XFS, aberrant microfibril formation emanating from the cell-extracellular matrix interface admixes with other macromolecules and is cross-linked by lysyl oxidase like 1 (LOXL1) activity. A common gene variant in the LOXL1 enzyme, an enzyme critical for enhancing the tensile strength of collagen and elastin in extracellular matrices, has been found in approximately 90% of XFS cases. However, approximately 80% of controls also have disease-associated LOXL1 gene variants. These findings point toward other nongenetic factors influencing the development of XFS. Increasing latitude, solar radiation, climatic variables and dietary factors such as high coffee consumption and low dietary folate intake are among the nongenetic factors associated with increased risk of XFS. SUMMARY: A greater understanding of the environmental components associated with XFS may lead to lifestyle preventive strategies to ameliorate disease burden.
PURPOSE OF REVIEW: Exfoliation syndrome (XFS), the most common cause of secondary open angle glaucoma, is associated with significant ocular morbidity. Recent studies have pointed toward environmental components that may alter the risk of XFS development. This review focuses on the recent studies elucidating the role of environmental factors that play a role in the development of exfoliation syndrome. RECENT FINDINGS: In XFS, aberrant microfibril formation emanating from the cell-extracellular matrix interface admixes with other macromolecules and is cross-linked by lysyl oxidase like 1 (LOXL1) activity. A common gene variant in the LOXL1 enzyme, an enzyme critical for enhancing the tensile strength of collagen and elastin in extracellular matrices, has been found in approximately 90% of XFS cases. However, approximately 80% of controls also have disease-associated LOXL1 gene variants. These findings point toward other nongenetic factors influencing the development of XFS. Increasing latitude, solar radiation, climatic variables and dietary factors such as high coffee consumption and low dietary folate intake are among the nongenetic factors associated with increased risk of XFS. SUMMARY: A greater understanding of the environmental components associated with XFS may lead to lifestyle preventive strategies to ameliorate disease burden.
Authors: Michael A Hauser; Inas F Aboobakar; Yutao Liu; Shiroh Miura; Benjamin T Whigham; Pratap Challa; Joshua Wheeler; Andrew Williams; Cecelia Santiago-Turla; Xuejun Qin; Robyn M Rautenbach; Ari Ziskind; Michèle Ramsay; Steffen Uebe; Lingyun Song; Alexias Safi; Eranga N Vithana; Takanori Mizoguchi; Satoko Nakano; Toshiaki Kubota; Ken Hayashi; Shin-ichi Manabe; Shigeyasu Kazama; Yosai Mori; Kazunori Miyata; Nagahisa Yoshimura; Andre Reis; Gregory E Crawford; Francesca Pasutto; Trevor R Carmichael; Susan E I Williams; Mineo Ozaki; Tin Aung; Chiea-Chuen Khor; W Daniel Stamer; Allison E Ashley-Koch; R Rand Allingham Journal: Hum Mol Genet Date: 2015-08-25 Impact factor: 6.150