Due to improved phenotyping and genetic characterization, the field of 'incurable'and
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …

PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …

Purpose: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP)
and Usher syndrome (US) in Italian patients. Methods: A total of 591 probands (315 with …

Background The genetic profile of retinitis pigmentosa (RP) in East Asian populations has
not been well characterised. Therefore, we conducted a large-scale sequencing study to …

Next-generation sequencing (NGS) technologies have changed the landscape of genetic
testing in rare diseases. However, the rapid evolution of NGS technologies has outpaced its …

Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically
heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we …

Purpose To develop a comprehensive next-generation sequencing panel assay that
screens genes known to cause developmental eye disorders and inherited eye disease and …

Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous
diseases involving more than 280 genes and no less than 20 different clinical phenotypes …

The Irish national registry for inherited retinal degenerations (Target 5000) is a clinical and
scientific program to identify individuals in Ireland with inherited retinal disorders and to …

While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the
major cause of registered visual handicap in the developed world. Given their hereditary …