5 Key Takeaways

• 1

  Researchers identified biallelic IDUA variants in 14 people from 12 families with retinitis pigmentosa.

• 2

  Seven participants aged 46 to 73 years had no systemic features consistent with mucopolysaccharidosis type I after clinical evaluation.

• 3

  Testing in nine individuals found detectable but greatly reduced α-L-iduronidase activity, with some variants retaining 0.5% to 1.5% of normal activity.

• 4

  Long-read RNA sequencing showed that a recurrent IDUA variant caused abnormal splicing, despite little apparent impact in conventional protein-based testing.

• 5

  The authors recommend including IDUA and other MPS-associated genes in inherited retinal disease panels and pursuing biochemical follow-up when both gene copies carry variants.