The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study

Genetic counselling and testing became an essential part of caregiving for patients and families affected by these severe IEDs. The most common IEDs were IRDs in the Muslim population and albinism in the Jewish population. Pathogenic variants in the TYR gene were the most common in our cohort, OCA2 gene was the second in frequency, followed by ABCA4, TRPM1 and USH2A genes. We detected an increasing trend over the studied time in the number of patients reaching out for genetic counselling.