Genetic Link Explains Inherited Blindness

Study identifies gene variants associated with retinal degeneration in patients without the systemic symptoms of a rare metabolic disorder

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Researchers identified biallelic IDUA variants in 14 people from 12 families with retinitis pigmentosa.
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Seven participants aged 46 to 73 years had no systemic features consistent with mucopolysaccharidosis type I after clinical evaluation.
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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.
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Long-read RNA sequencing showed that a recurrent IDUA variant caused abnormal splicing, despite little apparent impact in conventional protein-based testing.
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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.

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