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Next-generation Sequencing in Inherited Eye Diseases
Ann Optom Contact Lens 2018;17:89-96
Published online December 25, 2018
© 2018 The Korean Optometry & Contact Lens Study Society

Jinu Han, MD

Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University of College of Medicine, Seoul, Korea
Correspondence to: Jinu Han, MD
Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, #211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea
Tel: 82-2-2019-3445, Fax: 82-2-3463-1049
E-mail: jinuhan@yuhs.ac
Received December 5, 2018; Revised December 18, 2018; Accepted December 18, 2018.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Next-generation sequencing is widely used in inherited diseases and cancer genetics fields. Next-generation sequencing technology provides accurate diagnosis in genetically heterogeneous disorders such as retinitis pigmentosa, Leber congenital amaurosis, or cone-rod dystrophy. However, the precise interpretation of variants produced by massively parallel sequencing is somewhat difficult to most of ophthalmologists, and misinterpretation of these variants lead to unwanted devastating consequences to the patients and their family. The molecular genetic findings need to be carefully evaluated in the context of the clinical findings to avoid misdiagnosis. Gene therapy trials are already in the market for specific forms of Leber congenital amaurosis. We are in the middle of exiting era of effective treatment for patients with inherited eye diseases, which was considered as incurable in the past. To success such a treatment, molecular diagnosis will become essential.
Keywords : Inherited eye disease; Inherited retinal disease; Next-generation sequencing


December 2018, 17 (4)