Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland 20892-1860, USA.
Curr Opin Ophthalmol. 2012 Sep;23(5):355-63. doi: 10.1097/ICU.0b013e32835715c9.
Molecular genetics is revolutionizing the diagnosis and treatment of inherited eye diseases. The National Eye Institute of the National Institutes of Health (NIH), in an effort to facilitate future basic and clinical research in inherited eye disease, created The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE). This review describes the process and utility of the eyeGENE program as it relates to ophthalmic clinical practice.
Over the last few years, genetic testing of specific genes associated with inherited eye conditions is becoming the standard practice. Vision research and human clinical trials relying on molecular genetic testing of individuals with inherited eye conditions are becoming more common. Eye healthcare professionals must consider the options to assist patients in obtaining genetic testing results and locating trials or studies that may have benefit.
eyeGENE is a DNA repository and patient registry for inherited eye diseases coupled to phenotypic descriptors and molecular genetic information. Through eyeGENE, healthcare professionals throughout the United States and Canada can obtain Clinical Laboratory Improvement Amendments-certified clinical molecular genetic results on their patients. Researchers may request access to a de-identified database of phenotype and genotype information about eyeGENE participants and DNA aliquots for their research studies. eyeGENE also offers participants the option of being included in a patient registry, whereby they may be re-contacted if an approved clinical study for which they might qualify is offered.
分子遗传学正在彻底改变遗传性眼病的诊断和治疗。美国国立卫生研究院（NIH）下属国立眼科研究所（National Eye Institute）为促进遗传性眼病的未来基础和临床研究，创建了眼科疾病基因分型和表型网络（eyeGENE）。本文将描述 eyeGENE 计划的流程和用途，及其与眼科临床实践的相关性。
在过去几年中，针对与遗传性眼病相关的特定基因进行的基因检测已成为标准做法。依赖于对遗传性眼病患者进行分子遗传学检测的视觉研究和人类临床试验也越来越常见。眼科保健专业人员必须考虑各种选择，以帮助患者获得基因检测结果，并找到可能对其有益的试验或研究。
eyeGENE 是一个用于遗传性眼病的 DNA 存储库和患者登记处，与表型描述符和分子遗传学信息相关联。通过 eyeGENE，美国和加拿大的医疗保健专业人员可以为其患者获得经临床实验室改进修正案（CLIA）认证的临床分子遗传学检测结果。研究人员可以请求访问 eyeGENE 参与者的表型和基因型信息以及 DNA 等分试样的去识别数据库，用于他们的研究。eyeGENE 还为参与者提供了加入患者登记处的选择，如果有符合其条件的已批准临床研究，他们可能会被重新联系。
