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안과 영역에서의 차세대 염기서열 분석

Other Titles
 Next-generation Sequencing in Inherited Eye Diseases 
 Annals of Optometry and Contact Lens (검안 및 콘택트렌즈학회지), Vol.17(4) : 89-96, 2018 
Journal Title
 Annals of Optometry and Contact Lens (검안 및 콘택트렌즈학회지) 
Issue Date
Inherited eye disease ; Inherited retinal disease ; Next-generation sequencing
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.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
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