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

Adaptive optics (AO) imaging enables direct, objective assessments of retinal cells.
Applications of AO show great promise in advancing our understanding of the etiology of …

This study evaluated patient experiences with genetic testing for inherited retinal diseases
(IRDs) and the association between underlying knowledge, testing outcomes, and the …

Purpose To evaluate the outer retinal bands using OCT in ABCA4-and PRPH2-associated
retinopathy and develop a novel imaging biomarker to differentiate between these 2 …

With advances in gene‐based therapies for heritable retinal diseases, primary eye care
clinicians should be informed on ocular genetics topics. This cross‐sectional survey …

Background Usher syndrome is the most common cause of deaf-blindness, affecting up to 1
in 6000 people. Multidisciplinary care is required to maximize outcomes for individuals and …

Purpose Economic evaluations of interventions for ocular disease require utility scores that
accurately represent quality of life in the target population. This study aimed to describe the …

Purpose The objective of this paper is to shed light on the current landscape of genoty**
practices, phenoty** practices and availability of essential vision rehabilitation …

Recent advances have led to therapeutic options becoming available for people with
inherited retinal disease. In particular, gene therapy has been shown to hold great promise …

Purpose Emerging clinical trials for inherited retinal disease (IRD) require an understanding
of long-term progression. This longitudinal study investigated the genetic diagnosis and …