A new avenue for understanding rare eye diseases

Some families are affected by very early-onset, severe retinal disorders that lead to progressive vision loss from childhood. In several cases, despite extensive genetic testing, no causative gene can be identified. Our work is set in this context.

Discovery of a new gene involved in vision

Through whole-exome sequencing in two unrelated families from our cohort, in collaboration with the European Retinal Disease Consortium, we identified variants in a gene not previously associated with retinal disease.

This gene encodes an RNA helicase, a protein essential for RNA metabolism and involved in innate immunity. Until now, it had mainly been implicated in hematological disorders, with no established link to vision.

From gene to disease

Using complementary cellular approaches and experimental models, we investigate how these variants alter retinal cell function and progressively lead to vision loss.

Opening new perspectives

These findings expand our understanding of RNA helicases and reveal an unexpected role in retinal homeostasis. In the long term, this work may improve genetic diagnosis and open new avenues to better understand—and eventually treat—these rare vision disorders.