Regional variability in key genes of IRDs: Findings from Euretina Congress 2024

Key genes in inherited retinal dystrophies, like ABCA4, USH2A, RPGR, and CRB1, show varying prevalence rates depending on the region, according to a poster presented at the 24^th Euretina Congress.

Researchers analyzed literature from PubMed, Web of Science, and Google Scholar up to February 2024, reviewing 146 articles and selecting 23 for detailed analysis. The review identified significant genetic variability among global populations, with key genes such as ABCA4, USH2A, RPGR, and CRB1 showing varying prevalence rates. ABCA4 mutations were consistently observed as prevalent in IRD cases, while EYS mutations were notably common in East Asia, and RPGR mutations were more frequent in the US and Mexico.

Diagnostic approaches varied, with panel-based next-generation sequencing effective in approximately 72% of cases on average. The study also emphasized the need for region-specific genetic screening programs due to the observed disparities in gene prevalence.

Reference
Barros de Oliveira T, et al. A systematic review of the global landscape of inherited retinal dystrophies [e-Poster Abstract]. Euretina Congress 2024. Barcelona, Spain 19 – 22 September 2024.

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