Author

B. Kousal

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Open access Aug 2026

Clinical and molecular features of PRCD-associated retinopathy.

PURPOSE To describe the clinical and genetic characteristics of patients with biallelic disease-causing variants in the PRCD (Progressive Rod-Cone Degeneration) gene. METHODS Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries. Clinical assessments in...

V. Kostin, Karolina Kaminska, M. Cattaneo et al. · Acta ophthalmologica · 0 citations

Open access Sep 2026

Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1

This case series examines the anatomical and functional phenotype of a variant in EFEMP1, p.Arg140Trp, and its associations with retinal degeneration.

Chloe M. Stanton, G. Ansari, Kristina Pfau et al. · JAMA ophthalmology · 0 citations

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