scholarly journals Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma

2020 ◽  
Vol 13 (11) ◽  
pp. 1689-1696
Author(s):  
Sangwoo Moon ◽  
◽  
Namhee Kim ◽  
Jiwoong Lee ◽  
◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Normal Population ◽  
Direct Sequencing ◽  
Family Members ◽  
Poor Response ◽  
Clinical Aspects ◽  
Incomplete Penetrance ◽  
Open Angle

AIM: To report the first discovery of Ser341Pro myocilin (MYOC) variant in Korea and analyze its clinical characteristics and genetic significance. METHODS: Ten family members from three generations participated in this study and received the thorough ophthalmologic examination. Focused exome sequencing on a proband was performed to confirm the target mutations (MYOC c.1021T>C) in the family members, and the direct sequencing was conducted. Variant was analyzed according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines. RESULTS: A nucleotide change from thymine to cytosine at c.1021T>C was found in eight family members. Three members diagnosed with primary open angle glaucoma (POAG) were characterized by severe clinical presentations, high intraocular pressure, and poor response to medical treatment (100% of the patient required filtering surgery). On variant analysis by ACMG/AMP guidelines, Ser341Pro is not found in normal population. Multiple computational predictive programs support a deleterious effect of Ser341Pro variant (PolyPhen 2, SIFT, Mutation Taster). Ser341Pro could be involved in moderate (PM) and supporting (PP) criteria (PM1, PM2, PP2, PP3). Combining the criteria, Ser341Pro has a combination of 2 moderate (PM1+PM2) and 2 supporting (PP2+PP3) criteria, which is interpreted to “likely pathogenic”. CONCLUSION: The Ser341Pro variant is correlated with severe phenotype of POAG. There are similar clinical aspects to previous studies: autosomal dominant inheritance, incomplete penetrance (62.50% and 66.67%), and proportion of patients requiring trabeculectomy (100% in both study). According to ACMG/AMP guidelines and the previous basic researches, the Ser341Pro variant had a “strong evidence of pathogenicity (PS3)” and then it could be interpreted to “pathogenic (PS3, PM1, PM2, PP2, PP3)”. Additionally, Ser341Pro variant can be reported as “c.1021T>C (p.Ser341Pro), likely pathogenic, POAG, autosomal dominant” according to guideline.

Immunogenetic Aspects in Primary Open-angle Glaucoma in Family Members of Mexican Mestizo Glaucomatous Patients

1994 ◽  
Vol 118 (6) ◽  
pp. 744-748 ◽  
Author(s):  
Felix Gil-Carrasco ◽  
Julio Granados ◽  
Everardo Barojas-Weber ◽  
M. Eugenia Gilbert-Lucido ◽  
Gilberto Vargas-Alarcón
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Family Members ◽  
Open Angle ◽  
Mexican Mestizo

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2

2011 ◽  
Vol 52 (11) ◽  
pp. 7859 ◽  
Author(s):  
Louise F. Porter ◽  
Jill E. Urquhart ◽  
Eamonn O'Donoghue ◽  
A. Fiona Spencer ◽  
Emma M. Wade ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle

scholarly journals Central corneal thickness and intraocular pressure in patients of primary open angle glaucoma and normal population in Nepalese population: A hospital based study

2019 ◽  
Vol 11 (1) ◽  
pp. 46-54
Author(s):  
Lalit Agarwal ◽  
Nisha Agrawal ◽  
Badri Prasad Badhu ◽  
Poonam Lavaju
Keyword(s):  
Intraocular Pressure ◽  
Central Corneal Thickness ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Normal Population ◽  
Corneal Thickness ◽  
Open Angle ◽  
Glaucomatous Damage ◽  
Significant Difference ◽  
Primary Glaucoma

Introduction: Central corneal thickness (CCT) is a powerful predictor of primary open angle glaucoma. Individualized risk assessment is critical for early diagnosis and management of glaucoma. Objectives: To compare CCT and intraocular pressure in patients of primary openangle glaucoma (POAG) with those of normal population. Materials and methods: A Comparative Cross-Sectional Study was performed in Ophthalmology department of B. P. Koirala Institute of Health Sciences, Nepal. Newly diagnosed cases of primary glaucoma (open angle, normal tension) of 18 years and above, without known systemic diseases were included. Results: Out of a total of 291 subjects (582 eyes), 105 subjects (210 eyes) were with primary glaucoma and 186 (382 eyes) were normal subjects. There was no significant difference in CCT between glaucomatous (533.57 μm) and normal (530.06 μm) eyes (p=0.1). Cornea was thinner (518.±18.03 μm) in eyes with severe glaucomatous damage (cup:disc ratio > 0.8) than in moderate glaucomatous damage (cup:disc ratio=0.5-0.8)(p=0.003). There was a statistically significant difference of 22.05 μm in CCT between POAG and NTG (p<0.001). A positive correlation was found between IOP & CCT in both cases and control group (p=0.000; r = 0.355, 0.254; r2 =0.126, 0.064 respectively). Conclusion: Majority of studied Nepalese population have CCT less than 550 μm, thus increasing the risk of POAG. CCT decreases with age, and females with glaucoma have significantly thicker cornea than men. There is a significant positive correlation between CCT and IOP, and IOP will have to be adjusted for CCT for proper diagnosis and monitoring of glaucomatous damage in Nepalese population too.  

Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia

1997 ◽  
Vol 20 (1-3) ◽  
Author(s):  
Maurizio Fossarello ◽  
Ignazio Zucca ◽  
Silvana Galantuomo ◽  
Antonina Serra ◽  
Mario Pirastu ◽  
...  
Keyword(s):  
Genetic Mapping ◽  
Autosomal Dominant ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle

scholarly journals Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree

2001 ◽  
Vol 9 (6) ◽  
pp. 452-457 ◽  
Author(s):  
George Kitsos ◽  
Hans Eiberg ◽  
Effrosini Economou-Petersen ◽  
Mary K Wirtz ◽  
Patricia L Kramer ◽  
...  
Keyword(s):  
Genetic Linkage ◽  
Autosomal Dominant ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle

scholarly journals Analysis ofCOCHandTNFAVariants in East Indian Primary Open-Angle Glaucoma Patients

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Subhadip Chakraborty ◽  
Suddhasil Mookherjee ◽  
Abhijit Sen ◽  
Kunal Ray
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Direct Sequencing ◽  
Causal Variant ◽  
Upstream Region ◽  
Open Angle ◽  
Necrosis Factor Alpha ◽  
East Indian ◽  
Factor Alpha ◽  
Necrosis Factor

Glaucoma represents a heterogeneous group of optic neuropathies with a complex genetic basis. It is the second-largest cause of blindness in the world that reduces vision without warning and often without symptoms. Among 3 major subtypes of glaucoma, primary open-angle glaucoma (POAG) is the most common form. The focus of this study is to understand the molecular basis of the disease among Indian patients with respect to two genes, Cochlin (COCH) and tumor necrosis factor alpha (TNFA), selected based on reports of possible association with POAG. The genes were screened in patients and controls by PCR and direct sequencing. Although two novel changes (–450 C/T and –79 G/G) were identified in the 5′upstream region ofCOCH, no causal variant could be identified in either gene. –450 C/T was detected in 3 patients and 2 controls and –79 G/C in a single patient. Further, we did not observe significant association with the promoter SNPs ofTNFAthat had been previously reported to be associated with POAG pathogenesis. Thus, our study suggests lack of association of bothCOCHandTNFAwith POAG pathogenesis.

Clinical efficacy of osteopathic correction in the complex treatment of patients with unoperated open-angle glaucoma

2020 ◽  
pp. 97-105
Author(s):  
E. N. Simakova ◽  
O. V. Stenkova
Keyword(s):  
Intraocular Pressure ◽  
Drug Therapy ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Randomized Study ◽  
Main Group ◽  
Control Group ◽  
Open Angle ◽  
Complex Treatment ◽  
Hypotensive Drug

Introduction. Glaucoma is one of the most significant eye diseases. It is often diagnosed, not always amenable to therapy, and can lead to a complete loss of visual functions. In recent years, the method of osteopathic correction has become widespread as one of the effective methods of treatment and rehabilitation of patients with pathologies of various body systems. In the pathogenesis of glaucoma, it is customary to distinguish a dystrophic concept, which considers primary open-angle glaucoma as a result of dystrophic changes in the connective tissue, as well as in the endothelial lining of the trabeculae and Schlemm′s canal, especially destructive changes in mitochondria and the alteration of their functional activity. A vascular concept is also distinguished. According to this concept, the central link in the pathogenesis of glaucoma is circulatory disorder in the ciliary vessels, ocular artery, and major vessels of the head and neck, it can be assumed that osteopathic correction in the treatment of patients with open-angle glaucoma will be pathogenetically substantiated and will have a positive effect on intraocular pressure and trophicity of the optic nerve. The goal of research — to study the influence of in osteopathic correction on the nature of unoperated glaucoma (stage IIA) and to substantiate the possibility of using osteopathic correction in the complex treatment of patients with this pathology.Materials and methods. A prospective controlled randomized study was conducted at 52 city polyclinics, branch 3, Moscow, from January 2018 to January 2019. 40 patients (70 eyes) aged 50 to 75 years with primary open-angle glaucoma IIA stage were examined. At this stage of the disease, patients most often seek medical care and the issue of conservative management is primarily considered. All patients were divided into two groups of 20 people: the main group and the control group. The treatment in the main group included hypotensive drug therapy and osteopathic correction. Patients of the control group received only drug therapy. All patients underwent ophthalmic (visometry, tonometry, perimetry) and osteopathic examination twice: before the treatment and after 3 months.Results. For patients with primary open-angle IIA non-operated glaucoma, regional (most often regions of the head, neck, dura mater) and local (abdominal diaphragm, iliac bones, hip and knee joints) somatic dysfunctions were the most typical. In the main group a statistically significant decrease in the frequency and severity of dysfunctions at all levels was stated. Also, in patients receiving osteopathic correction, a significant decrease in the level of intraocular pressure and perimetric indices was noted. In patients of the control group, no reliable changes in these indicators were obtained.Conclusion. The results obtained indicate that osteopathic correction is clinically effective in the complex treatment of patients with primary open-angle II A glaucoma.

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