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. 2020 Sep;184(3):535-537.
doi: 10.1002/ajmg.c.31841. Epub 2020 Aug 31.

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

Robert B Hufnagel  1 , Michael A Walter  2 , Gavin Arno  3   4
Affiliations

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

Robert B Hufnagel et al. Am J Med Genet C Semin Med Genet. 2020 Sep.

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.

Keywords: introduction; ophthalmic genetics; special issue.

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Conflict of interest statement

CONFLICT OF INTEREST

None.

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