primary open-angle glaucoma

原发性开角型青光眼
  • 文章类型: Journal Article
    本文是第四个芬兰当前诊断护理指南的英文翻译,原发性开角型青光眼的治疗和随访,正常眼压青光眼和假性剥脱性青光眼。本指南基于系统的文献综述和专家意见,并考虑到芬兰的地理和运营医疗保健环境。
    This article is an English translation of the 4th Finnish Current Care Guideline for diagnostics, treatment and follow-up of primary open-angle glaucoma, normal-tension glaucoma and pseudoexfoliative glaucoma. This guideline is based on systematic literature reviews and expert opinions with Finland\'s geographical and operational healthcare environment in mind.
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  • 文章类型: Journal Article
    变异标准的标准化对于准确解释遗传结果和患者的临床护理至关重要。由美国医学遗传学和基因组学学院(ACMG)和分子病理学协会(AMP)于2015年开发的变异管理指南被广泛使用,但不是基因特异性的。为了解决这个问题,临床基因组资源(ClinGen)变异型治疗专家组(VCEP)的任务是制定基因特异性变异型治疗指南.青光眼VCEP的创建是为了开发与原发性青光眼相关的基因的规则规范,包括肌蛋白(MYOC),最常见的原因是孟德尔青光眼。在28个ACMG/AMP标准中,青光眼VCEP对MYOC调整了15条规则,并确定13条规则不适用.关键规格包括确定次要等位基因频率阈值,制定计算先证者和隔离者的方法,并回顾功能测定。这些规则在81种变体上进行了试点,并导致在ClinVar中分类的40%的变体发生了分类变化,具有影响18个变体分类的功能证据。MYOC的标准化变体策展指南为实验室之间的规则一致应用提供了框架,改善青光眼管理中的MYOC基因检测。
    The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific. To address this issue, the Clinical Genome Resource (ClinGen) Variant Curation Expert Panels (VCEP) have been tasked with developing gene-specific variant curation guidelines. The Glaucoma VCEP was created to develop rule specifications for genes associated with primary glaucoma, including myocilin (MYOC), the most common cause of Mendelian glaucoma. Of the 28 ACMG/AMP criteria, the Glaucoma VCEP adapted 15 rules to MYOC and determined 13 rules not applicable. Key specifications included determining minor allele frequency thresholds, developing an approach to counting probands and segregations, and reviewing functional assays. The rules were piloted on 81 variants and led to a change in classification in 40% of those that were classified in ClinVar, with functional evidence influencing the classification of 18 variants. The standardized variant curation guidelines for MYOC provide a framework for the consistent application of the rules between laboratories, to improve MYOC genetic testing in the management of glaucoma.
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  • 文章类型: Journal Article
    Purpose: To evaluate the prescribing habits of glaucoma specialists and of general ophthalmologists, and reveal the conformance with European Glaucoma Society (EGS) guidelines in the medical treatment of primary open-angle glaucoma (POAG) and ocular hypertension (OHT). Methods: Patients receiving medical treatment for POAG/OHT in the glaucoma clinic comprised the \"naive group.\" Patients having a diagnosis and a treatment for POAG/OHT initiated in another center before presentation comprised the second group and were named as \"treatment initiated elsewhere\" (TIEW). All patients were retrospectively evaluated from the patients\' charts. The outcome measures included the percentage of eyes treated with monotherapy, the molecule groups preferred, and the change in prescription trends over the years in both groups. Results: Seventy-two subjects were included in the naive group and 135 subjects in TIEW group. The rate of monotherapy was 76% and 36% in both groups, respectively. The molecule number was significantly higher in the TIEW group compared with naive group (1.98 ± 0.89 vs. 1.28 ± 0.56, P < 0.001). Until 2003, beta blockers, and in the 2003-2008 period, prostaglandin analogs (PGAs) were the mostly prescribed drugs in glaucoma clinic. From 2009, the rate of PGAs declined, with PGAs being replaced by combination drugs and alfa-2 agonists. Conclusions: Overtreatment rate was high among patients receiving a diagnosis and a treatment by general ophthalmologists, whereas glaucoma specialists were found to conform with EGS guidelines. A shift toward polypharmacy was observed from 2000 to 2017. The common guidelines to evaluate and treat glaucoma need to be adopted by the general ophthalmologists in their real-life practice.
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