Study reveals the most common inherited retinal diseases globally and regionally
A study presented at ARVO 2023 has shed light on the prevalence and burden of inherited retinal diseases (IRD) caused by specific genes in different populations. The findings of this review and meta-analysis are of significant importance in the current era of precision medicine.
The study, conducted by a team of international researchers, systematically reviewed relevant studies published up to December 2022, using databases such as PubMed, Medline, Web of Science, and Scopus. The researchers also requested unpublished data from respective IRD study groups. The aim was to estimate the prevalence of each IRD-causing gene globally and regionally, using a random effect linear mixed model meta-regression analysis with stepwise model selection.
The analysis included data from 22 studies published between 2013 to 2022, with a total number of 21 530 probands. The studies were published from 19 countries in four regions: Europe, Western-Pacific, America, and East Mediterranean. The median genetically solved rate was 61%, ranging from 32% to 86%.
Globally, the 5 most common IRD genes amongst IRD cases were ABCA4, USH2A, RPGR, EYS, and RHO. In Europe, the most common genes were ABCA4, USH2A, RPGR, RHO, and PRPH2. In the Americas, the most common genes were ABCA4, USH2A, RPGR, EYS, and CRB1. In the Western-Pacific region, the most common genes were EYS, CYP4V2, USH2A, ABCA4, and RPGR.
These findings provide unprecedented insight into the genetic landscape of IRDs globally and regionally, aiding in the projection of potentially treatable IRD patients and relevant health resource allocations. The study’s authors hope that the results of this review and meta-analysis will encourage further research into the underlying genetic causes of IRDs, leading to more targeted and effective treatments.