Hufnagel, RB;
Walter, MA;
Arno, G;
(2020)
Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
, 184
(3)
pp. 535-537.
10.1002/ajmg.c.31841.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Introduction to the special issue on Ophthalmic Genetics: Vision in 2020 |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/ajmg.c.31841 |
| Publisher version: | https://doi.org/10.1002/ajmg.c.31841 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| Keywords: | introduction, ophthalmic genetics, special issue |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10112540 |
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