In this special issue of the American Journal of Medical Genetics, Part C, we explore the ever‐expanding field of Ophthalmic Genetics. The eye is unique among organs for its accessibility to physical examination, permitting exploration of every tissue by slit lamp microscopy, ophthalmoscopy, and imaging including color and autofluorescent photography, ultrasound, optical coherence tomography (OCT), electrophysiology, and adaptive optics confocal and scanning laser ophthalmoscopy. This accessibility permits a variety of surgical and nonsurgical treatments, including the first FDA‐approved gene therapy, voretigene neparvovec‐rzyl for RPE65‐associated Leber Congenital Amaurosis. In this issue, we sought to provide a survey highlighting how heritable ophthalmic disorders are recognizable and accessible to clinical geneticists as well as ophthalmologists.

中文翻译：

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眼科遗传学特刊简介：2020年的愿景。

在本期《美国医学遗传学杂志》 C 部分特刊中，我们探讨了不断扩大的眼科遗传学领域。眼睛在器官中是独一无二的，因为它易于进行身体检查，允许通过裂隙灯显微镜、检眼镜和成像（包括彩色和自体荧光摄影、超声、光学相干断层扫描 (OCT)、电生理学和自适应光学共聚焦和扫描）来探索每个组织激光检眼镜。这种可访问性允许进行各种手术和非手术治疗，包括 FDA 批准的第一个基因治疗，用于RPE65的 voretigene neparvovec-rzyl‐相关的 Leber 先天性黑蒙。在本期中，我们试图提供一项调查，以突出临床遗传学家和眼科医生如何识别和获取遗传性眼科疾病。