Publications by authors named "Mark Edward Pennesi"
Article Synopsis
- Congenital stationary night blindness (CSNB) is a genetic eye condition often linked to high myopia, which can lead to serious retinal issues, making understanding myopic progression crucial for potential treatments.
- The study analyzed cases of CSNB associated with specific genetic variants in patients under 18 who had multiple eye measurements, using a mixed-effect model to track changes in myopia over time.
- Results showed that individuals with CSNB are significantly myopic from birth and continue to experience worsening myopia as they grow, suggesting they may benefit from treatments aimed at slowing down myopia progression.
Purpose: To evaluate the safety and efficacy of rAAV2tYF-CB-hRS1, a recombinant adeno-associated virus vector expressing retinoschisin (RS1), in individuals with retinal disease caused by mutations in the RS1 gene.
Design: Open-label, phase I/II dose-escalation clinical trial.
Subjects: Twenty-two adults and 5 children with X-linked retinoschisis (XLRS), aged 10 to 79 years, were enrolled.
Background/aims: To better understand the pattern of degeneration progression in cases with choroideremia.
Methods: A cohort of genotypically confirmed choroideremia cases who underwent optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging was studied. Using HEYEX review software, the foveal centre was marked on FAF images under guidance of corresponding OCT images, followed by application of an ETDRS grid.