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Author

B. Falsini

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2 papers indexed here

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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. · 0 citations
Open access Aug 2026

Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants

Purpose: Despite advancements in genetic testing, a significant number of patients with retinal dystrophy receive negative test results due to single-allele mutations in genes with autosomal recessive inheritance patterns. This study aimed to address this diagnostic challenge by proposing a preliminary mathematical mod...

M. Medori, A. Macchia, P. Maltese et al. · 0 citations

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