Abstract
Inherited retinal degenerations (IRDs) include various forms of blinding retinal degeneration with genetic heterogeneity such as retinitis pigmentosa, cone-rod dystrophy, Stargardt disease, etc. Establishing a molecular diagnosis in IRD is important for proper diagnosis, genetic counseling, predicting prognosis, and clinical trials of retinal gene therapies. In this chapter, recent studies using gene panel-based next-generation sequencing in Korean patients with IRDs will be presented. Targeted gene panel sequencing seems to be an efficient approach to find genetic causes of IRDs.
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