Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

Yavas et al. (2025) used Genomize-SEQ to analyze whole-exome sequencing data from 50 Turkish patients with inherited eye diseases, identifying the genetic cause in 58% of cases — including six previously unknown variants — and pinpointing a likely common founder mutation in the ABCA4 gene within the Turkish population.