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News
Scientists have discovered that mutations in the IDUA gene — best known for causing a serious metabolic disorder — can also lead to inherited blindness without the usual full-body symptoms. A study of 14 patients found they had retinitis pigmentosa tied to IDUA changes, but largely escaped the severe complications of MPS I. The findings suggest IDUA should be on the radar when evaluating unexplained inherited retinal disease.
Researchers at the Greenwood Genetic Center (GGC) have uncovered a surprising genetic link: mutations in the IDUA gene, typically associated with mucopolysaccharidosis type I (MPS I) — a rare and often debilitating metabolic disorder — can cause retinitis pigmentosa (RP), a progressive form of inherited blindness, without triggering the broader systemic complications of MPS I.
The international study, published in The American Journal of Human Genetics, examined 14 individuals from 12 families diagnosed with RP. All carried changes in both copies of the IDUA gene, yet many showed none of the hallmark MPS I features like skeletal abnormalities, heart problems, or severe physical disability. Lab work revealed that these "hypomorphic" gene variants allow a small residual amount of enzyme activity — just enough to protect most of the body, but not the retina.
Key Takeaways:
Why it matters: Many patients with inherited blindness go undiagnosed for years. This discovery expands the genetic landscape of retinal disease and could help clinicians identify — and potentially treat — a previously overlooked cause of vision loss.
