💡 Researchers have discovered that faults in the IDUA gene, previously linked to a severe childhood metabolic illness, can also cause a milder form of inherited blindness in adults.

🔬 The study, co-led by scientists from the University of Manchester, found that specific combinations of faults in the IDUA gene can lead to retinitis pigmentosa, with patients showing no signs of the classic, severe metabolic disorder.

🧬 This discovery broadens the understanding of MPS I, revealing it can exist in a much milder form, with residual gene function as low as 0.5-2% potentially protecting organs while leaving the retina vulnerable.

#Genetics #Blindness #MedicalResearch