ABSTRACT

Advances in molecular genetics over the past three decades have helped identify a substantial number of genetic variants causing inherited eye diseases that can be identified rapidly by appropriate genetic tests in a clinically useful window. With this progression of knowledge, the roles of genetics and ophthalmology in patient care have become increasingly intertwined, and the necessity for subspecialists in the field of ophthalmic genetics is of paramount importance. As a result of continual medical specialization, technological progress in genetics and knowledge garnered by over a century and a half of cataloguing eye pathology, ophthalmic genetics has become an emerging subspecialty within ophthalmology. By virtue of its rapidly changing advances, genetics and genomics serves a large role within ophthalmology, and subspecialists with the same level of detailed and broad knowledge as any other ophthalmology subspecialty are now required in order to meet the growing needs of the expanding population.

摘要

在过去的三十年中，分子遗传学的进展已帮助鉴定出导致遗传性眼部疾病的大量遗传变异，这些变异可通过在临床上有用的窗口中进行适当的遗传检测而迅速鉴定出来。随着知识的发展，遗传学和眼科在患者护理中的作用越来越交织在一起，眼科遗传学领域的专科医生的必要性至关重要。由于持续不断的医学专业化，遗传学和知识的技术进步（经过超过一个半世纪的时间对眼病理学进行分类），眼科遗传学已成为眼科学的新兴专业。凭借其迅速变化的进步，遗传学和基因组学在眼科学中起着重要的作用，