Year: 2015
Type: article
Abstract: PURPOSE: To summarize various topics and the cutting edge approaches to refine XFS pathogenesis that were discussed at the 21st annual Glaucoma Foundation Think Tank meeting in New York City, Sept. 19-20, 2014. METHODS: The highlights of three categories of talks on cutting edge research in the field were summarized. RESULTS: Exfoliation syndrome (XFS) is a systemic disorder with a substantial ocular burden, including high rates of cataract, cataract surgery complications, glaucoma and retinal vein occlusion. New information about XFS is akin to puzzle pieces that do not quite join together to reveal a clear picture regarding how exfoliation material (XFM) forms. CONCLUSION: Meeting participants concluded that it is unclear how the mild homocysteinemia seen in XFS might contribute to the disarrayed extracellular aggregates characteristic of this syndrome. Lysyl oxidase-like 1 (LOXL1) variants are unequivocally genetic risk factors for XFS but exactly how these variants contribute to the assembly of exfoliation material (XFM) remains unclear. Variants in a new genomic region, CACNA1A associated with XFS, may alter calcium concentrations at the cell surface and facilitate XFM formation but much more work is needed before we can place this new finding in proper context. It is hoped that various animal model and ex vivo systems will emerge that will allow for proper assembly of the puzzle pieces into a coherent picture of XFS pathogenesis. A clear understanding of XFS pathogenesis may lead to 'upstream solutions' to reduce the ocular morbidity produced by XFS.
Source: Acta Ophthalmologica
DOI: 10.1111/aos.12918
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Funders: Massachusetts General Hospital, Yale University, Purdue University, Vanderbilt University, NYU Langone Medical Center, State University of New York, Cleveland Clinic, University of Rochester, New York Eye and Ear Infirmary of Mount Sinai, McGill University, York University, University of Alberta, Genome Institute of Singapore, University of Miyazaki, School of Medicine, New York University, University of North Carolina at Chapel Hill, University of California, San Diego, School of Medicine, SUNY Downstate Medical Center, Lerner Research Institute, Cleveland Clinic
OpenAlex ID: W2195511779