Annals of Optometry and Contact Lens 2018;17(4):89-96.
Published online December 25, 2018.
안과 영역에서의 차세대 염기서열 분석
연세대학교 의과대학 강남세브란스병원 안과학교실 시기능 개발연구소
Next-generation Sequencing in Inherited Eye Diseases
Jinu Han
Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University of College of Medicine, Seoul, Korea
Received: 5 December 2018   • Revised: 18 December 2018   • Accepted: 18 December 2018
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.
Key Words: Inherited eye disease; Inherited retinal disease; Next-generation sequencing
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