The recent approval of voretigene neparvovec (Luxturna®) for patients with biallelic RPE65
mutation-associated inherited retinal dystrophy with viable retinal cells represents an …

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

Introduction: Obtaining a genetic diagnosis via genetic testing (GT) is a fundamental step in
determining the eligibility of a patient to be enrolled in emerging clinical trials and research …

Purpose To explore and report on the quality-of-life (QoL) issues encountered by adults with
childhood glaucoma. Design Exploratory qualitative study. Participants Forty-seven …

Background Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy
which results in progressive vision loss. There is scant literature on the experiences of …

Purpose To investigate and report on the quality-of-life (QoL) issues experienced by
caregivers of individuals with childhood glaucoma. Design Exploratory, qualitative study …

Purpose: To assess the measurement properties of the Attitudes to Gene Therapy for the
Eye (AGT-Eye) instrument among Australian adults with inherited retinal diseases (IRDs) …

Objective To understand the physical, psychosocial, and practical challenges faced by
Canadian patients with inherited retinal diseases (IRDs) and their families. Design Mixed …

Purpose Retinal dystrophies are genetically heterogeneous, resulting from mutations in over
200 genes. Prior to the development of massively parallel sequencing, comprehensive …

Background: Genetic eye pathology represents a significant percentage of the causes of
blindness in industrialized countries. This study explores the level of understanding and …