The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles.

Two recurrent founder alleles account for 39.2% of EYS variants in an Eastern European and Northern Asian cohort with retinitis pigmentosa.

• Why it matters: Understanding the mutational landscape of EYS in these populations fills a knowledge gap and can improve targeted screening and treatment strategies for inherited retinal diseases.
• What they did: Researchers analyzed 39 patients with biallelic EYS variants from 500 enrolled in a genotyping trial, using whole exome sequencing, structural variant analysis, and comprehensive ophthalmic phenotyping.
• The result: They identified 34 distinct variants, including 15 novel ones, with two alleles being most frequent and supported by relatedness analysis as shared founder mutations; worse visual acuity was linked to older age.