Table 1 - uploaded by Roger Wolfs
Content may be subject to copyright.
Source publication
To study familial aggregation of primary open-angle glaucoma in a general population and to determine the absolute and relative risks for first-degree relatives.
First-degree relatives of patients with glaucoma (n = 48) and control subjects (n = 155) from the population-based Rotterdam Study underwent a standardized examination, including perimetry...
Context in source publication
Context 1
... mean age of siblings of patients was 72.3 years ( Table 1); they were, on average, 3.0 years younger than siblings of controls (95% confidence interval [CI] = −0.3 to −5.7, adjusted for sex). The mean age of offspring of patients was 42.2 years; they were, on average, 3.5 years younger than offspring of controls (95% CI = −1.3 to −5.7). ...
Similar publications
Glaucoma is an optic neuropathy that is associated with ganglion cell degeneration, related
retinal nerve fiber loss and subsequent specific changes in optic nerve head. Retinal sensitivity to light decreases due to this process and respective visual field defects develop according to the areas of nerve fiber loss. The documentation and follow-up o...
Purpose:
To evaluate the accuracy of the macular retinal layer segmentation software of the Spectralis spectral-domain (SD) optical coherence tomography (OCT) device (Heidelberg Engineering, Inc., Heidelberg, Germany) to discriminate between healthy and early glaucoma (EG) eyes.
Design:
Prospective, cross-sectional study.
Participants:
Forty E...
To identify factors accounting for differences in glaucoma onset and rate of progression between individuals of African descent and European descent.
A prospective, multicenter observational cohort study of 1221 participants of African descent and European descent with no glaucoma (normal), suspected glaucoma, and glaucoma. Six hundred eighty-six p...
Purpose
Glaucoma is a leading cause of irreversible blindness worldwide. Retinal ganglion cells (RGC), the neurons that connect the eyes to the brain, specifically die in glaucoma, leading to blindness. Elevated intraocular pressure (IOP) is the only modifiable risk factor, however, many patients progress despite excellent IOP control. Thus, altern...
Background/Aim. Changes in the concentration of various mediators of inflammation and immune response in blood, aqueous humor, or eye tissues support the theory of inflammation and immune system activity in the pathogenesis of openangle glaucoma. Inflammatory biomarkers have a great potential for application in clinical practice. We investigated th...
Citations
... The present study found a significant association between a family history of glaucoma and the presence of glaucoma. Several studies reported similar findings [44,45]. Awadalla et al. reported that firstdegree relatives (parents, siblings, or children) of around half of POAG cases had a ninefold increased risk of developing glaucoma in a study conducted among an Australian cohort of patients [45]. ...
... Awadalla et al. reported that firstdegree relatives (parents, siblings, or children) of around half of POAG cases had a ninefold increased risk of developing glaucoma in a study conducted among an Australian cohort of patients [45]. Wolfs RC et al. found that the lifetime risk of glaucoma development was 22.0% in relatives of glaucoma patients and 2.3% in relatives of those who have not had glaucoma [44]. ...
Purpose
This study aimed to assess the association between migraine headache and glaucoma among the adult population living in Armenia.
Methods
This case–control study recruited 145 cases with glaucoma and 250 controls without glaucoma and other ocular disorders except refractive error from Optomed Canada Diagnostic Eye Center in Armenia. A structured questionnaire contained questions on socio-demographics, family history of glaucoma and stroke, ocular health, smoking, migraine, and obstructive sleep apnea. The Migraine Screening Questionnaire assessed possible migraine and the Berlin Questionnaire measured obstructive sleep apnea.
Results
The mean ages of cases and controls were 63.3 (SD = 12.3) and 39.5 (SD = 13.5), respectively. Females comprised 62.8% of cases and 69.1% of controls. A total of 17.8% of cases and 19.0% of controls had possible migraine. In the adjusted analysis older age (OR 1.17; 95% CI 1.12; 1.23), average/lower than average socio-economic status (OR 5.27; 95% CI 1.30; 21.3), and family history of glaucoma (OR 4.25; 95% CI 1.51; 11.9) were associated with high-tension glaucoma.
Conclusion
Timely case detection of glaucoma among those with average/low socio-economic status and those with family history of glaucoma could prevent further progression of the disease. Further studies to explore the relationship between migraine headache and specific types of glaucoma may be worthwhile.
... • Older age (African American, 40+ years; Caucasians, 65+ years) [26] • Race (African-American, Afro-Caribbean, and West African patients have a 4-fold increased risk of developing OAG) [26] • Family history (eg, the Rotterdam Eye study found a 9.2 times higher risk of developing OAG if first-degree relatives had glaucoma) [27] • Elevated IOP [28] • Myopia (eg, results from studies have reported an increased risk of glaucoma of up to 20% for each diopter increase in myopia) [29] • Increased cup-to-disc ratio [30] • Disc hemorrhage [31] • Thin central corneal thickness [32] • Low ocular perfusion pressure [33] • Low blood pressure (systolic and diastolic) [34] • High blood pressure (systemic arterial hypertension has been associated with but is not a confirmed risk factor for OAG) [35] • Type 2 diabetes mellitus [36] • High pattern standard deviation on visual fields [37] • Migraine or vasospasm [38] • Low intracranial (cerebral spinal fluid) pressure [39] • Oral contraceptive pill [40] • Lifestyle risk factors include smoking, obesity, alcohol, anxiety, stress, and sleep apnea [41] Pathophysiology ...
... In that regard, there is an emerging area of scientific research, called epigenetics, that shows how environmental influences affect gene expression. Epigenetics should be recognized as an important element of glaucoma pathogenesis and development [10,11]. Epigenetics, in addition to genetics and environmental factors, influences the signaling pathways that are responsible for disease progression [10,11]. ...
... Epigenetics should be recognized as an important element of glaucoma pathogenesis and development [10,11]. Epigenetics, in addition to genetics and environmental factors, influences the signaling pathways that are responsible for disease progression [10,11]. ...
Glaucoma, a complex and multifactorial neurodegenerative disorder, is a leading cause
of irreversible blindness worldwide. Despite significant advancements in our understanding of
its pathogenesis and management, early diagnosis and effective treatment of glaucoma remain
major clinical challenges. Epigenetic modifications, encompassing deoxyribonucleic acid (DNA)
methylation, histone modifications, and non-coding RNAs, have emerged as critical regulators
of gene expression and cellular processes. The aim of this comprehensive review focuses on the
emerging field of epigenetics and its role in understanding the complex genetic and molecular
mechanisms underlying glaucoma. The review will provide an overview of the pathophysiology
of glaucoma, emphasizing the intricacies of intraocular pressure regulation, retinal ganglion cell
dysfunction, and optic nerve damage. It explores how epigenetic modifications, such as DNA
methylation and histone modifications, can influence gene expression, and how these mechanisms
are implicated in glaucomatous neurodegeneration and contribute to glaucoma pathogenesis. The
manuscript discusses evidence from both animal models and human studies, providing insights into
the epigenetic alterations associated with glaucoma onset and progression. Additionally, it discusses
the potential of using epigenetic modifications as diagnostic biomarkers and therapeutic targets for
more personalized and targeted glaucoma treatment.
... Rasė turi didelę reikšmę glaukomos rizikai: afrikiečių ir afroamerikiečių populiacijose pirminės atviro kampo glaukomos paplitimas yra didesnis, lyginant su europiečių [4]. Teigiama šeiminė anamnezė taip pat svarbi, nes asmenų, kurių artimi giminaičiai serga glaukoma, rizika susirgti šia liga gerokai didesnė [5]. Tam tikros sisteminės ligos, pavyzdžiui, cukrinis diabetas, arterinė hipertenzija, yra susijusios su padidėjusiu sergamumu pirmine atviro kampo glaukoma. ...
Glaukoma apibūdinama kaip specifinė optinė neuropatija (negrįžtamas regos nervo pažeidimas) su charakteringais akipločio defektais ir akispūdžio patologiniais svyravimais. Glaukoma serga milijonai žmonių. Tai pagrindinė aklumo priežastis pasaulyje. Ligą galima suskirstyti į dvi pagrindines grupes: atviro kampo ir uždaro kampo glaukomą. Glaukomos patofiziologija yra daugiaveiksnė, apimanti genetinius ir aplinkos rizikos veiksnius. Glaukomos diagnostika paprastai apima išsamų akių ištyrimą, tonometriją, perimetriją ir kitus tyrimo metodus. Tikslas yra išsaugoti regėjimo funkciją, užtikrinant paciento gyvenimo kokybę. Tyrimo tikslas − įvertinti, susisteminti ir išanalizuoti mokslinėje literatūroje pateikiamus duomenis apie glaukomą, reikšmingus rizikos veiksnius, galinčius turėti įtakos šios patologijos vystymuisi, diagnostikos bei taktikos ypatumus.
... However, this success rate factors include systemic arterial hypertension and type-2 diabetes mellitus. Within the family history of AAPP the risk is increased up to 8 times more among siblings, and in the male gender; men have an increased risk of 30% when compared to women adjusted for age [4][5][6][7][8][9][10] . ...
... Entre los factores de riesgo sistémicos destacan la hipertension arterial sistémica y diabetes mellitus tipo-2. Dentro de la historia familiar de GPAA el riesgo se ve incrementado hasta 8 veces más entre hermanos(as), y en el género masculino; los hombres tienen un riesgo aumentado del 30% al compararlos con mujeres ajustado para la edad [4][5][6][7][8][9][10] . ...
... These discrepancies may be attributed to the heterogeneity of study populations, variations in diagnostic criteria, and differences in study designs. 4,5 Hypertension is characterized by elevated blood pressure levels, and it can lead to significant changes in the cardiovascular system. 6 Chronic hypertension can cause vascular remodeling, leading to increased vascular resistance and altered autoregulation of blood flow. ...
Background: Primary open-angle glaucoma (POAG) is a significant cause of irreversible blindness worldwide. Aims and Objectives: This study aimed to investigate the prevalence of POAG among hypertensive patients. Materials and Methods: A comprehensive analysis was conducted on 200 hypertensive patients, categorizing them by gender, age groups, and blood pressure ranges. POAG was diagnosed using standardized criteria, and mean intraocular pressure (IOP) values were compared between POAG patients and normal individuals. The study also assessed the change in IOP across various ranges of systolic and diastolic blood pressure (SBP and DBP). Results: Among the hypertensive population, 5% of males and 3% of females were diagnosed with POAG, indicating a slightly higher prevalence in males. POAG incidence was notably higher in the 60–69 years of age group, suggesting a potential correlation with older age. Analysis of mean IOP values demonstrated significantly higher readings in both eyes of POAG patients compared to normal individuals, aligning with the hallmark of glaucoma. The distribution of hypertensive patients across different SBP and DBP ranges revealed that higher SBP levels (140–149 mmHg and ≥160 mmHg) were associated with more POAG cases. Similarly, elevated DBP levels (90–99 mmHg) showed the highest number of POAG cases. Conclusion: Our study suggests a slightly higher prevalence of POAG in male hypertensive patients and highlights older age as a potential risk factor. Elevated IOP, a characteristic feature of glaucoma, was confirmed in POAG patients. In addition, our findings indicate a potential association between higher SBP and DBP levels and an increased likelihood of POAG, emphasizing the importance of blood pressure management in glaucoma care.
... Several studies of single-gene variants, genome-wide association studies (GWAS) and whole-exome sequencing have revealed various mutations that have association with glaucoma. In addition, the risk of developing POAG is 10 times higher among firstdegree relatives of POAG patients indicating strong disease heritability (Wolfs et al., 1998). Heritability (h 2 ) refers to the proportion of variability of trait due to genetic factors compared to environmental factors and is expressed from 0 to 1. Pooled h 2 from various studies have shown a wide range reaching up to an estimate of 0.81 (Asefa et al., 2019). ...
... A positive family history carried a 9-fold risk for first-degree relatives compared to controls in one study, but this required full examination of all first degree relatives rather than selfreport [39]. The accuracy of self-reported family history for glaucoma has been studied and found to be an unreliable measure as many patients are unaware of family members with diagnosed glaucoma, or have erroneous views as to what caused vision loss in relatives [40]. More recent data indicates that PRS provides a more accurate representation of risk with family history in an Australian population based study [20]. ...
Background
Glaucoma and age-related macular degeneration (AMD) account for a substantial portion of global blindness. Both conditions are highly heritable, with recognised monogenic and polygenic inheritance patterns. Current screening guidelines lack decisive recommendations. Polygenic risk scores (PRS) allow for cost-effective broad population risk stratification for these conditions. The predictive potential of PRS could facilitate earlier diagnosis and treatment, and prevent unnecessary vision loss.
Methods
The Genetic Risk Assessment of Degenerative Eye disease (GRADE) study is a prospective study designed to generate high-quality evidence about the feasibility of PRS to stratify individuals from the general population, enabling identification of those at highest risk of developing glaucoma or AMD. The targeted recruitment is 1000 individuals aged over 50 years, from which blood or saliva samples will be used for genotyping and an individual PRS for glaucoma and AMD will be derived. Individuals with PRS values in the bottom decile (n = 100), top decile (n = 100) and middle 80% (n = 100) for both glaucoma and AMD will undergo a detailed eye examination for glaucoma and/or AMD.
Discussion
The primary objective will be to compare the prevalence of glaucoma and AMD cases between low, intermediate, and high PRS risk groups. We expect to find a higher prevalence of both diseases in the high PRS risk group, as compared to the middle and low risk groups. This prospective study will assess the clinical validity of a PRS for glaucoma and AMD in the general Australian population. Positive findings will support the implementation of PRS into clinical practice.
... A family history of OAG was associated with a two-fold increased risk of having a CDR in the upper quartile. The recognised relationship between a positive family history and OAG (20,21) is a likely explanation for this finding. ...
Background
Increased cup-disc ratio (CDR) is a hallmark of open-angle glaucoma (OAG), an age-related neurodegenerative disease of significant importance for public health. There are few studies on the distribution of CDR in the Nordic populations.
Methods
The distribution of CDR was studied in 749 subjects aged 65–74 years in a population survey in the rural district of Tierp, Sweden, from 1984 to 86. The optic discs were assessed with binocular ophthalmoscopy at a slit lamp. Drawings of the discs were made in the protocol and used for the calculation of vertical CDRs. Odds ratios, adjusted for age and sex, according to Mantel-Haenszel (ORMH), were determined to estimate predictors of increased CDR, defined as a ratio in the upper quartile. For these analyses, the eye with the most advanced OAG or the highest pressure was chosen. Automated perimetry was used to identify OAG.
Results
The distribution of vertical CDR was fairly close to that of other European-derived populations. The mean CDR was 0.45 in both eyes, with no difference between women and men. An increased ratio was associated with the age ≥70 years, a positive family history of OAG and intraocular pressure ≥20 mmHg. OAG increased the risk 8-fold (ORMH 8.06; 95% CI 4.12–15.8).
Conclusions
In this study, the distribution of CDR was fairly close to that of other European-derived populations. As expected, OAG increased the risk of having a CDR in the upper quartile. The CDR increased with age.
