A gene blamed for a devastating childhood illness is also quietly stealing sight — and now doctors can spot it

For 14 adults losing their sight to retinitis pigmentosa, the cause turned out to be hiding in an unexpected gene. Researchers co-led by the University of Manchester, University College London and the Greenwood Genetic Center in the USA found that milder faults in IDUA — a gene normally linked to the severe metabolic disorder MPS I — can leave just 0.5 to 2% of normal enzyme activity: enough to protect the rest of the body, but not the retina. Some patients reached their seventies with eye disease as their only symptom. Published in The American Journal of Human Genetics, the finding argues for adding IDUA to inherited-blindness testing and newborn screening, so vision can be protected before damage is done. 'Their disease appeared confined to the retina, the mildest presentation we've seen to date,' says lead author Dr Siying Lin.

SDG 3 · Good health and well-being — Mechanism: tech innovation