Author

Stefanida Shliaga

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Open access Oct 2026

Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.

Importance Inherited retinal diseases are genetically heterogeneous disorders, with retinitis pigmentosa (RP) representing the most common form; although more than 90 genes have been implicated, many RP cases remain molecularly unsolved. Objectives To describe an adult-onset RP phenotype associated with loss-of-funct...

Viviana Cordeddu, Riccardo Sangermano, S. Mulder et al. · JAMA ophthalmology · 1 citation

Open access Aug 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.

Petra Liskova, L. Dudakova, Karolina Kaminska et al. · HGG advances · 0 citations