scholarly journals Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration

PLoS ONE ◽  
2018 ◽  
Vol 13 (8) ◽  
pp. e0200739 ◽  
Author(s):  
Luciana M. Pujol-Lereis ◽  
Gerhard Liebisch ◽  
Tina Schick ◽  
Yuchen Lin ◽  
Felix Grassmann ◽  
...  
Keyword(s):  
Risk Factors ◽  
Macular Degeneration ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Age Related Macular Degeneration ◽  
Age Related

Prevalence of age-related macular degeneration associated genetic risk factors and 4-year progression data in the Irish population

2018 ◽  
Vol 102 (12) ◽  
pp. 1691-1695 ◽  
Author(s):  
Emma Connolly ◽  
Maedbh Rhatigan ◽  
Aisling M O’Halloran ◽  
Katherine Alyson Muldrew ◽  
Usha Chakravarthy ◽  
...  
Keyword(s):  
Risk Factors ◽  
Macular Degeneration ◽  
Disease Progression ◽  
Genetic Risk ◽  
Risk Allele ◽  
Genetic Risk Factors ◽  
Age Related Macular Degeneration ◽  
Complement Factor ◽  
Age Related ◽  
Soft Drusen

Background/aimsAge-related macular degeneration (AMD) is estimated to affect 196 million people >50 years old globally. Prevalence of AMD-associated genetic risk factors and rate of disease progression are unknown in Ireland.MethodsPrevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed. 4473 participants ≥50 years were assessed. 4173 had no disease n=1843; 44% male and n=2330; 56% female, mean age 60±9.0, 300 had AMD n=136; 45% male and n=164; 55% female, mean age 64±9.0. A 4-year follow-up was undertaken with 66% of AMD cases attending. Progression and regression from early to late AMD were measured. Genetic association as indicators of disease and as predictors of progression were assessed by multinomial logistic regression.ResultsOlder age and the presence of CFH and ARMS2 risk alleles are two main risk factors associated with the prevalence of AMD in the TILDA cohort. 23% progressed to a higher grade of AMD. Carriers of CFH risk allele showed a strong association for disease progression. Heterozygosity for ARMS2 risk allele predicted progression to late AMD. 75% of those who progressed from early to late disease had soft drusen and hyperpigmentation at baseline.ConclusionsThe prevalence of risk-associated genes and 4-year progression rates of AMD in this Ireland cohort are comparable with other Caucasian populations. CFH Y402H is associated with disease progression, with soft drusen and hyperpigmentation as high-risk features.

Combined effects of genetic and non-genetic risk factors affect response to ranibizumab in exudative age-related macular degeneration

2014 ◽  
Vol 93 (6) ◽  
pp. e451-e457 ◽  
Author(s):  
Stefano Piermarocchi ◽  
Stefania Miotto ◽  
Davide Colavito ◽  
Alberta Leon ◽  
Tatiana Segato
Keyword(s):  
Risk Factors ◽  
Macular Degeneration ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Age Related Macular Degeneration ◽  
Combined Effects ◽  
Age Related

scholarly journals Genetic Risk Factors Are Not Associated with Wet Age-Related Macular Degeneration Treatment Response to Ranibizumab

2018 ◽  
Vol 239 (4) ◽  
pp. 240-240
Author(s):  
Varun Chaudhary ◽  
Michael Brent ◽  
Wai-Ching Lam ◽  
Robert Devenyi ◽  
Joshua Teichman ◽  
...  
Keyword(s):  
Risk Factors ◽  
Macular Degeneration ◽  
Treatment Response ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Age Related Macular Degeneration ◽  
Age Related

P3-274: Major genetic risk factors for age-related macular degeneration are not associated with Alzheimer's disease

2008 ◽  
Vol 4 ◽  
pp. T602-T602
Author(s):  
M. Axel Wollmer ◽  
Aleksandra Maruszak ◽  
Magdalini Tsolaki ◽  
Elisabeth Kapaki ◽  
Dietmar R. Thal ◽  
...  
Keyword(s):  
Risk Factors ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Macular Degeneration ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Age Related Macular Degeneration ◽  
Age Related

scholarly journals Genetic and Risk factors in Dry-Form (Non-Neovascular) Age-Related Macular Degeneration

2017 ◽  
pp. 100-104
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Macular Degeneration ◽  
Genetic Variants ◽  
Genetic Risk ◽  
Older Persons ◽  
Complex Disease ◽  
Age Related Macular Degeneration ◽  
Genetic Studies ◽  
Age Related

Age-related macular degeneration (AMD) is the leading cause of severe visual impairment in older persons. AMD is a multifactorial complex disease that both genetic and many environmental factors play roles in its etiopathogenesis. In recent years, advances in genetic studies have led to the detection of many genetic variants that play a role in the pathogenesis of AMD. This review summarized the environmental and genetic risk factors of AMD.

scholarly journals Incidence of elevated intraocular pressure after intravitreal injection in Japanese patients with age-related macular degeneration

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maiko Maruyama-Inoue ◽  
Tatsuya Inoue ◽  
Shaheeda Mohamed ◽  
Yoko Kitajima ◽  
Shoko Ikeda ◽  
...  
Keyword(s):  
Risk Factors ◽  
Intraocular Pressure ◽  
Macular Degeneration ◽  
Intravitreal Injection ◽  
Odds Ratio ◽  
Japanese Patients ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Elevated Intraocular Pressure ◽  
History Of

AbstractThe purpose of this study was to report the incidence of elevated intraocular pressure (IOP) after intravitreal injection (IVI) of anti-vascular endothelial growth factor (VEGF) in Japanese patients with age-related macular degeneration (AMD). A retrospective study of chart review of patients who underwent ≥ 10 intravitreal anti-VEGF injections between April 2009 and December 2019 was conducted. Elevated IOP was defined as IOP ≥ 25 mmHg at one visit. Cases with elevated IOP resulting from IVI were identified. Furthermore, the association between elevated IOP and some parameters, as the risk factors that influence elevated IOP, was investigated. A total of 402 eyes of 370 patients were included in this study. Twenty-eight eyes of 26 patients (7.0%) were identified as cases with elevated IOP after IVI. The mean time of elevation after baseline was 50.6 ± 26.5 months. History of glaucoma (p = 0.021; odds ratio, 5.85), treatment modality (p = 0.019; odds ratio, 6.32), and total number of injections (p = 0.003; odds ratio, 1.03) were significantly associated with elevated IOP. A late complication of elevated IOP is associated with IVI in patients with AMD. Particularly, history of glaucoma and treat and extend regimen with frequent injections were found to be risk factors of elevated IOP.

scholarly journals Interactions between Apolipoprotein E Metabolism and Retinal Inflammation in Age-Related Macular Degeneration

Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 635
Author(s):  
Monica L. Hu ◽  
Joel Quinn ◽  
Kanmin Xue
Keyword(s):  
Risk Factor ◽  
Apolipoprotein E ◽  
Macular Degeneration ◽  
Amyloid Beta ◽  
Complement System ◽  
Genetic Risk ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Retinal Inflammation ◽  
The Complement System

Age-related macular degeneration (AMD) is a multifactorial retinal disorder that is a major global cause of severe visual impairment. The development of an effective therapy to treat geographic atrophy, the predominant form of AMD, remains elusive due to the incomplete understanding of its pathogenesis. Central to AMD diagnosis and pathology are the hallmark lipid and proteinaceous deposits, drusen and reticular pseudodrusen, that accumulate in the subretinal pigment epithelium and subretinal spaces, respectively. Age-related changes and environmental stressors, such as smoking and a high-fat diet, are believed to interact with the many genetic risk variants that have been identified in several major biochemical pathways, including lipoprotein metabolism and the complement system. The APOE gene, encoding apolipoprotein E (APOE), is a major genetic risk factor for AMD, with the APOE2 allele conferring increased risk and APOE4 conferring reduced risk, in comparison to the wildtype APOE3. Paradoxically, APOE4 is the main genetic risk factor in Alzheimer's disease, a disease with features of neuroinflammation and amyloid-beta deposition in common with AMD. The potential interactions of APOE with the complement system and amyloid-beta are discussed here to shed light on their roles in AMD pathogenesis, including in drusen biogenesis, immune cell activation and recruitment, and retinal inflammation.

scholarly journals Neovascular Macular Degeneration: A Review of Etiology, Risk Factors, and Recent Advances in Research and Therapy

2021 ◽  
Vol 22 (3) ◽  
pp. 1170
Author(s):  
Arunbalaji Pugazhendhi ◽  
Margaret Hubbell ◽  
Pooja Jairam ◽  
Balamurali Ambati
Keyword(s):  
Risk Factors ◽  
Macular Degeneration ◽  
Kinase Inhibitors ◽  
Rho Kinase ◽  
The Elderly ◽  
Age Related Macular Degeneration ◽  
Gene Therapies ◽  
Rho Kinase Inhibitors ◽  
Age Related ◽  
Endothelial Growth Factor

Neovascular age-related macular degeneration (exudative or wet AMD) is a prevalent, progressive retinal degenerative macular disease that is characterized by neovascularization of the choroid, mainly affecting the elderly population causing gradual vision impairment. Risk factors such as age, race, genetics, iris color, smoking, drinking, BMI, and diet all play a part in nvAMD’s progression, with anti-vascular endothelial growth factor (anti-VEGF) therapy being the mainstay of treatment. Current therapeutic advancements slow the progression of the disease but do not cure or reverse its course. Newer therapies such as gene therapies, Rho-kinase inhibitors, and levodopa offer potential new targets for treatment.

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