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Unexpected link identified between rare metabolic disease gene and inherited blindness (opens in a new tab)

medicalxpress.com · 2026-10-06

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The source study

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I

The American Journal of Human Genetics · 2026
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Claim 1 of 5Not checkedResearchers at the Greenwood Genetic Center led the discovery of an unexpected connection between inherited blindness and a gene known for causing a rare metabolic disorder.View evidenceHide evidence

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Claim 2 of 5Not checkedThe international study examined 14 individuals from 12 families with retinitis pigmentosa, and genetic testing found that all carried changes in both copies of the IDUA gene, which is typically associated with mucopolysaccharidosis type I.View evidenceHide evidence

As stated14 individuals from 12 families

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Claim 3 of 5Not checkedMany of the affected individuals did not have the broader health problems typically associated with mucopolysaccharidosis type I, even at older ages.View evidenceHide evidence

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Claim 4 of 5Not checkedFunctional studies suggested that some of the IDUA variants allow a very small amount of enzyme activity to remain, which may help explain why these individuals developed retinal disease without widespread MPS I features.View evidenceHide evidence

As stateda very small amount of enzyme activity

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Claim 5 of 5Not checkedThe findings broaden the known range of conditions associated with IDUA and suggest IDUA should be considered when evaluating patients with inherited retinal disease, even when they do not have typical MPS I features.View evidenceHide evidence

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Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I

The American Journal of Human Genetics · 2026

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Crossref, PubMed, Europe PMC · 16 candidate papers

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Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I

The American Journal of Human Genetics · 2026 · Crossref

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