Rare gene mutation linked to vision loss and hidden health complications

Researchers identified a genetic defect in SCLT1 that damages cone cells in the eye, causing color vision problems in two siblings. The discovery could help doctors screen for this overlooked condition and understand broader health risks that often go undetected in patients with similar genetic mutations.

Originaltitel: Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1