Oct 2026
Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.
Viviana Cordeddu, Riccardo Sangermano, Sterre W. M. Mulder et al.
· JAMA ophthalmology · 0 citations
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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.
· Research Square · 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.
· JAMA ophthalmology · 0 citations