Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

被引:0
|
作者
Hufnagel, Robert B. [1 ]
Walter, Michael A. [2 ]
Arno, Gavin [3 ,4 ]
机构
[1] NEI, NIH, 10 Ctr Dr,10N109, Bethesda, MD 20892 USA
[2] Univ Alberta, Dept Med Genet, Edmonton, AB, Canada
[3] UCL, Inst Ophthalmol, London, England
[4] Moorfields Eye Hosp, London, England
关键词
introduction; ophthalmic genetics; special issue; EYE;
D O I
10.1002/ajmg.c.31841
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In this special issue of theAmerican 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 forRPE65-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.
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页码:535 / 537
页数:3
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