Retinitis Pigmentosa’s New Genetic Player
-
By
January 29, 2026
-
2 min
A recent study published in Nature Genetics has shed light on the genetic underpinnings of retinitis pigmentosa (RP), revealing that noncoding small nuclear RNAs (snRNAs), particularly RNU4-2 and four RNU6 paralogs, play a critical role in causing nonsyndromic autosomal dominant RP. This breakthrough implicates that these snRNAs, previously overlooked, could account for approximately 1.4% of unsolved RP cases by identifying pathogenic variants in numerous international cohorts. The findings highlight not only the genetic complexity of RP but also the need for inclusion of snRNA genes in future diagnostic considerations.
1. 30-50% of RP cases are undetermined genetically. 2. Noncoding snRNAs can cause autosomal dominant RP. 3. RNU4-2 and RNU6 are key genes involved. 4. The study identified 153 affected individuals across 67 families. 5. Common symptoms include cystoid macular edema and lens opacities. 6. Potential for future diagnostic improvements using snRNA genetics. 7. Next breakthroughs in retinal genetics may focus on noncoding RNAs.
Listen Tab content
