Aug 2026
CLUAP1 variants cause non-syndromic retinitis pigmentosa.
Jacqueline Fröhlich, F. Testa, Karolina Kaminska et al.
· Graefe's archive for clinica... · 0 citations
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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
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