Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

Aboobakar, Inas F.; Johnson, William M.; Stamer, W. Daniel; Hauser, Michael A.; Allingham, R. Rand

doi:10.1016/j.exer.2016.11.011

Cited by 106 publications

(120 citation statements)

References 177 publications

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“…Thus, XFG patients are likely to have earlier and more frequent filtering surgery (Vesti & Kivela 2000;. In addition to the risk of developing glaucoma, XFS has been suggested as a risk factor for many intraocular complications, including complicated cataract surgery, dispersion of melanin granules, inadequate mydriasis, circular posterior synechiae, blood-aqueous barrier dysfunction, anterior segment hypoxia, corneal decompensation, accelerated cataracts, retinal vascular diseases, cerebrovascular and cardiovascular complications, zonular instability and lens subluxation (Conway et al 2004;Desai & Lee 2008;Ritch 2014;Aboobakar et al 2017;Chung et al 2018). It has been suggested that higher rates of cataract development in XFS patients could be a result of more frequent apoptosis in lens epithelial cells (Oltulu & Oltulu 2018).…”

Section: Introductionmentioning

confidence: 99%

Recent advances in risk factors associated with ocular exfoliation syndrome

Sharaf

Damji

Unsworth

2019

Acta Ophthalmologica

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Exfoliation syndrome is generally considered a progressive age‐related systemic disorder of the extracellular matrix, which is clinically characterized through the observation of flaky white aggregates on ocular tissues. Exfoliation syndrome is directly linked to exfoliative glaucoma in elderly patients, where it is known as the most common identifiable cause of open‐angle glaucoma. Despite the identification of various risk factors associated with exfoliation syndrome, the exact pathogenesis of this syndrome has not been fully elucidated. There is a growing number of genome‐wide association studies in different populations around the world to identify genetic factors underlying exfoliation syndrome. Besides variants in LOXL1 and CACNA1A genes, new loci have been recently identified which are believed to be associated with exfoliation syndrome. Among different genetic factors, functional variants might help to better understand mechanisms underlying this systemic disorder. Besides genetic factors, epigenetic regulation of different gene expression patterns has been thought to play a role in its pathogenesis. Other factors have been also considered to be involved in the development of exfoliation syndrome at cellular organelles level where mitochondrial impairment and autophagy dysfunction have been suggested in relation to exfoliation syndrome. This review addresses the most recent findings on genetic factors as well as cellular and molecular mechanisms involved in both the development and progression of exfoliation syndrome.

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Section: Introductionmentioning

confidence: 99%

Recent advances in risk factors associated with ocular exfoliation syndrome

Sharaf

Damji

Unsworth

2019

Acta Ophthalmologica

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“…Наименьшим эффект был в 5-й группе -ВГД снизилось у 42,8% пациентов, в среднем составив 9,4% (рис. 3,4). В остальных группах пациентов наблюдалась тенденция к снижению уровня ВГД (см.…”

Section: результаты и обсуждениеunclassified

“…ПЭС характеризуется значительной географической неоднородностью и имеет наибольший удельный вес в ряде стран Северной Европы [4,5]. Во всем мире в возрастной группе старше 60 лет поражение ПЭС достигает 10-20% [3,6].…”

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Multi-level analysis of the prevalence of pseudoexfoliative syndrome and pseudoexfoliative glaucoma

Kuleshova¹,

Пичикова

Lasareva

et al. 2017

Vestn. oftal'mol.

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“…Millions of people worldwide are affected (Quigley, 1996; Thylefors and Negrel, 1994), and in the United States glaucoma is the second leading cause of blindness (Leske, 1983). Adult-onset glaucoma is associated with multiple risk factors such as intraocular pressure (IOP), age, family history, ethnicity, central corneal thickness and axial length (Aboobakar et al, 2016; Liu and Allingham, 2011; Nickells, 2012; Springelkamp et al, 2017). Genetically, primary open angle glaucoma (POAG) and normal tension glaucoma (NTG), common forms of adult-onset glaucoma, are currently associated with 16 loci (Wiggs and Pasquale, 2017) and exhibit complex inheritance.…”

Section: Introductionmentioning

confidence: 99%

Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse

Struebing

King

Liu

et al. 2018

Experimental Eye Research

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The present study was designed to identify genomic loci modulating the susceptibility of retinal ganglion cells (RGC) to elevated intraocular pressure (IOP) in the BXD recombinant inbred mouse strain set. IOP was elevated by injecting magnetic microspheres into the anterior chamber and blocking the trabecular meshwork using a handheld magnet to impede drainage. The IOP was then measured over the next 21 days. Only animals with IOP greater than 25 mmHg for two consecutive days or an IOP above 30 mmHg on a single day after microsphere-injection were used in this study. On day 21, mice were sacrificed and the optic nerve was processed for histology. Axons were counted for both the injected and the control eye in 49 BXD strains, totaling 181 normal counts and 191 counts associated with elevated IOP. The axon loss for each strain was calculated and the data were entered into genenetwork.org. The average number of normal axons in the optic nerve across all strains was 54,788 ± 16% (SD), which dropped to 49,545 ± 20% in animals with artificially elevated IOP. Interval mapping demonstrated a relatively similar genome-wide map for both conditions with a suggestive Quantitative Trait Locus (QTL) on proximal Chromosome 3. When the relative axon loss was used to generate a genome-wide interval map, we identified one significant QTL (p < 0.05) on Chromosome 18 between 53.6 and 57 Mb. Within this region, the best candidate gene for modulating axon loss was Aldh7a1. Immunohistochemistry demonstrated ALDH7A1 expression in mouse RGCs. ALDH7A1 variants were not significantly associated with glaucoma in the NEIGHBORHOOD GWAS dataset, but this enzyme was identified as part of the butanoate pathway previously associated with glaucoma risk. Our results suggest that genomic background influences susceptibility to RGC degeneration and death in an inducible glaucoma model.

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Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

Cited by 106 publications

References 177 publications

Recent advances in risk factors associated with ocular exfoliation syndrome

Recent advances in risk factors associated with ocular exfoliation syndrome

Multi-level analysis of the prevalence of pseudoexfoliative syndrome and pseudoexfoliative glaucoma

Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse

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