CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease
resulting in childhood blindness. Sepofarsen is an RNA antisense oligonucleotide targeting …

Inherited retinal diseases (IRDs) have been in the front line of gene therapy development for
the last decade, providing a useful platform to test novel therapeutic approaches. More than …

Background Emerging treatments are being developed for inherited retinal diseases,
requiring a clear understanding of natural progression and a database of potential …

Many gene therapies are in development for treating people with inherited retinal diseases
(IRD). We hypothesized that potential recipients of gene therapy would have knowledge …

Inherited retinal diseases (IRDs) represent one of the major causes of progressive and
irreversible vision loss in the working-age population. Over the last few decades, advances …

Background Inherited retinal dystrophies (IRD) are one of the main causes of incurable
blindness worldwide. IRD are caused by mutations in genes that encode essential proteins …

Background To assess the prevalence of genetic testing for inherited retinal diseases (IRDs)
in a tertiary practice setting. Methods Single-centre retrospective analysis of patients with …

Purpose This study sought to describe the phenotype frequency and genetic basis of
inherited retinal diseases (IRDs) among a nationwide cohort of Israeli Jewish patients of …

Inherited retinal diseases (IRDs) may have significant diagnostic challenges due to their
genetic complexity and diverse inheritance patterns. Advanced genotyping tools like exome …

Background The low prevalence of rare diseases poses a significant challenge in advancing
their understanding. This study aims to delineate the clinical and genetic characteristics of …