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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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