Author

F. Testa

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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

Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.

Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevelopmental anomalies and myopathy, through single-family reports, with this associ...

Maria-Gerasimoula Karali, Susanne Kohl, F. Testa et al. · European Journal of Human Ge... · 0 citations