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Author

O. Mahroo

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Open access Oct 2026

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

Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I (MPS I), a multisystem lysosomal storage disorder. This study describes 14 individuals from 12 families presenting with retinitis pigmentosa, later attributed to bi-allelic IDUA genotypes. Notably, seven individuals, despite comprehensive system...

Si-Ying Lin, Seok-Ho Yu, Andrew C. Browning et al. · 0 citations
Open access Jul 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy

KATNA1 is established as a novel gene associated with adMD, possibly accounting for ~4% of all unresolved MD cases, and associate defective microtubule severing and cytoskeletal dysregulation with macular degeneration.

Carlo Rivolta, Karolina Kaminska, Abigail R. Moye et al. · 0 citations
Open access Jul 2026

XXYLT1 and Mendelian Retinal Dystrophy

Findings support the need to include XXYLT1 in clinical IRD gene panels, one of the identified genes, as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts.

Minna Kraatari-Tiri, Hina Ishtiaq, J. Tyrmi et al. · 0 citations

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