scholarly journals MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal

2020 ◽  
Vol 34 (13) ◽  
Author(s):  
Filipe Silva ◽  
Filipa Ferreira ◽  
Pedro Faria ◽  
Isa Sobral ◽  
Mariana Rodrigues ◽  
...  
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Late Onset ◽  
Open Angle Glaucoma ◽  
Gene Mutations ◽  
Normal Tension Glaucoma ◽  
Sequencing Analysis ◽  
Open Angle ◽  
Sequence Variations ◽  
Increased Risk ◽  
Centre Region

Introduction: Primary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing the disease, suggesting a genetic predisposition to the disease. MYOC was the first primary open-angle glaucoma-causing gene identified. This study aimed to identify sequence variations in the MYOC gene that may be responsible for the phenotype in a group of primary open-angle glaucoma patients from the Centre Region of Portugal.Material and Methods: The three coding exons and the proximal splicing junctions of the MYOC gene were studied using a PCR sequencing approach in a group of 99 primary open-angle glaucoma patients.Results: The sequencing analysis enabled the identification of 20 variants, including four in the promoter region, seven in the introns and nine in exons one and three, of which four were missense variants.Discussion: Initially, all four missense sequence variations identified were considered candidates to glaucoma causing disease mutations. However, after literature review, only variant c.1334C>T (Ala445Val) remained as likely responsible for mild late-onset normal tension glaucoma.Conclusion: This is the first study performed in a group of primary open-angle glaucoma patients from the Centre Region of Portugal, contributing to the identification of one genetic variant in the MYOC gene and reinforcing the hypothesis that normal tension glaucoma could be also due to MYOC gene mutations.

scholarly journals Prevalence of glaucoma in first-degree relatives of patients with primary open-angle glaucoma and normal-tension glaucoma

2018 ◽  
Vol 16 (2) ◽  
pp. 95-100
Author(s):  
Preeti Gupta ◽  
Vijaya Pai. H.
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Risk Groups ◽  
Normal Tension Glaucoma ◽  
Open Angle ◽  
First Degree Relatives ◽  
Increased Risk ◽  
The Family ◽  
High Prevalence ◽  
History Of

Objective: To determine the prevalence of glaucoma in first-degree relatives of patients with primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). Methods: Observational study of first-degree relatives of patients with POAG and NTG who were screened for glaucoma. Results: A total of 66 first-degree relatives of patients with glaucoma (POAG/NTG) were included in the study. We found a prevalence rate of 16.6%: 13.6% were diagnosed to have the disease and 3% were newly detected to have glaucoma during the study. We found that although 66.7% of the subjects were aware of the family history of glaucoma, only 36.4% were aware that they were at increased risk of developing glaucoma. Conclusion: In our study, we found high prevalence of glaucoma in first-degree relatives of patients with glaucoma. This highlights the importance of selective screening of high-risk groups such as first-degree relatives of patients with POAG/NTG.

scholarly journals Relationships between Obesity, Nutrient Supply and Primary Open Angle Glaucoma in Koreans

Nutrients ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 878
Author(s):  
Jae Yeun Lee ◽  
Joon Mo Kim ◽  
Kyoung Yong Lee ◽  
Bokyung Kim ◽  
Mi Yeon Lee ◽  
...  
Keyword(s):  
Regression Analysis ◽  
Dietary Intake ◽  
Large Scale ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Multivariate Logistic Regression Analysis ◽  
Open Angle ◽  
Cross Sectional Survey ◽  
Increased Risk ◽  
Calcium Phosphorus

To investigate the association between nutrient intake and primary open angle glaucoma (POAG) in Koreans, a population-based, cross-sectional survey, the Korean National Health and Nutrition Examination Survey, was analyzed. Glaucoma diagnosis was based on criteria established by the International Society of Geographic and Epidemiologic Ophthalmology. Multivariate regression analysis was used to assess the correlation between dietary intake and the prevalence of POAG in all enrolled subjects. In the low Body mass index(BMI) group (BMI <18.5), females with POAG had significantly lower intakes of energy, protein, fat, carbohydrate, ash, calcium, phosphorus, sodium, potassium, vitamin A, B-carotene, thiamin, riboflavin, and vitamin C than their non-glaucoma counterparts, based on a multivariate logistic regression analysis (all p < 0.05). In females with a medium BMI (18.5 ≤ BMI < 23), POAG showed a significant association with lower food intake, energy, protein, calcium, phosphorus, potassium, thiamin and niacin. (all p < 0.05). Lower protein thiamine intake in medium BMI males was related to POAG. Low dietary intake of several nutrients showed an association with glaucoma in low BMI female subjects. An insufficient intake of certain nutrients may be associated with an increased risk of glaucoma in Koreans. Further large-scale cohort studies are needed to determine how specific nutrients alter the risk of glaucoma.

Primary Open-angle Glaucoma and Increased Risk of Chronic Kidney Disease

2019 ◽  
Vol 28 (12) ◽  
pp. 1067-1073
Author(s):  
Sang Jun Park ◽  
Seong Jun Byun ◽  
Jae Yoon Park ◽  
Martha Kim
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Increased Risk
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