| Summary: | 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 <i>EYS</i> (8.2%), <i>USH2A</i> (6.8%), and <i>PDE6B</i> (4.7%), but mutations were dispersed among the 51 RP/IRD genes generally. Meanwhile, the <i>PDE6B</i> mutation was the most common in patients experiencing initial symptoms in their first decade, <i>EYS</i> in their second to third decades, and <i>USH2A</i> in their fifth decades and older. Of note, WES revealed some unexpected genotypes: <i>ABCC6</i>, <i>CHM</i>, <i>CYP4V2</i>, <i>RS1</i>, <i>TGFB</i><i>I</i>, <i>VPS13B</i>, and <i>WDR19</i>, which were verified by ophthalmological re-phenotyping.
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