New study highlights key genetic targets for gene-based therapies in retinal dystrophies

The early identification of common phenotypes and causative genes in children with inherited retinal dystrophies (IRDs) is crucial for optimizing the outcomes of upcoming gene-based therapies, according to a study that highlights the most prevalent IRD phenotypes and genetic mutations in the pediatric population.

The research, conducted on 624 patients under 20 years old from the Dutch RD5000 database, aimed to pinpoint which groups might benefit most from future treatments.

The study found that retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) were the most common IRD phenotypes among the pediatric population, affecting 20% and 16% of the cohort, respectively. X-linked retinoschisis and achromatopsia were also significant, each accounting for 10% of cases. Genetic causes were identified in 76% of the patients tested, with the RS1 and CEP290 genes being the most frequently implicated.

The research also highlighted that periodic reanalysis of genetic data increased diagnostic yields by 7%, suggesting that continuous genetic assessment could be beneficial in unresolved cases.

Reference
Heutinck PAT, van den Born LI, Vermeer M, et al. Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium. Invest Ophthalmol Vis Sci. 2024;65(10):40. doi: 10.1167/iovs.65.10.40. PMID: 39189993; PMCID: PMC11361385.