Whole Genome Sequencing in Patients with Retinitis Pigmentosa

Retinitis pigmentosa (RP), the most common form of retinal dystrophy, for which numerous disease-associated genes have been identified, has been studied mainly through the investigation of patients of Caucasian descent. Meanwhile, the genetic background of RP patients in Asia has remained elusive for many years because countries in this region lacked infrastructure and resources to conduct genetic research. However, those circumstances are changing rapidly. The recent economic growth of Asian countries and interest in Asian markets have attracted a large investment in the field of genetics, resulting in a substantial improvement in the research environment. Furthermore, the recent application of next-generation sequencing (NGS) technology has enabled the assessment of numerous candidate genes at an affordable cost, finally providing an opportunity to elucidate the genetics of RP in Asian countries.