Francesca Simonelli

CLUAP1 variants cause non-syndromic retinitis pigmentosa.

Real-world anatomical and functional outcomes following Faricimab therapy in neovascular age-related macular degeneration: a one-year observational study

This study evaluated 12-month anatomical and functional outcomes of Faricimab in Italian patients with neovascular age-related macular degeneration (nAMD). 30 eyes from 30 participants who completed the 12-month follow-up were retrospectively analyzed at “Luigi Vanvitelli” University Eye Clinic (Naples) an...

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...

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...