Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

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

Whole-genome sequencing (WGS) is positioned to become one of the most robust
strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable …

Abstract Background Rare Eye Diseases (RED) are the leading cause of visual impairment
and blindness for children and young adults in Europe. This heterogeneous group of …

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

Worldwide 20,000–40,000 children with congenital or childhood cataract are born every
year with varying degrees and patterns of lens opacification with a broad aetiology. In most …

Abstract Background 5'untranslated regions (5'UTRs) are essential modulators of protein
translation. Predicting the impact of 5'UTR variants is challenging and rarely performed in …

Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior
segment dysgenesis (ASD), have created challenges for proper diagnosis and classification …

Purpose To evaluate the impact of inherited retinal diseases (IRDs) on quality of life (QoL)
using multiattributable health utilities derived from primary patient data. Design Cross …

Congenital cataracts are one of the major causes of childhood‐onset blindness around the
world. Genetic diagnosis provides benefits through avoidance of unnecessary tests …