Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing (WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the Korean population. A cohort of 279 unrelated Korean patients with clinically diagnosed RP and available family members underwent molecular analyses using TGS consisting of 88 RP-causing genes and/or WES with clinical variant interpretation. The combined genetic tests (TGS and/or WES) found a mutation in the 44 RP-causing genes and seven inherited retinal disease (IRD)-causing genes, and the total mutation detection rate was 57%. The mutation detection rate was higher in patients who experienced visual deterioration at a younger age (75.4%, age of symptom onset under 10 years) and who had a family history of RP (70.7%). The most common causative genes were (8.2%), (6.8%), and (4.7%), but mutations were dispersed among the 51 RP/IRD genes generally. Meanwhile, the mutation was the most common in patients experiencing initial symptoms in their first decade, in their second to third decades, and in their fifth decades and older. Of note, WES revealed some unexpected genotypes: , , , , , , and , which were verified by ophthalmological re-phenotyping.