The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …

Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic
variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes …

Inherited retinal degenerations (IRDs) represent a diverse group of progressive, visually
debilitating diseases that can lead to blindness in which mutations in genes that are critical …

Endpoint development trials are underway across the spectrum of retinal disease. New
validated endpoints are urgently required for the assessment of emerging gene therapies …

Importance Sensitive outcome measures for disease progression are needed for treatment
trials of Stargardt disease. Objective To describe the yearly progression rate of atrophic …

Purpose: To describe the phenotype and clinical course of patients with RPGR-associated
retinal dystrophies, and to identify genotype–phenotype correlations. Methods: A multicenter …

BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of visual
loss in older people. Advanced AMD takes two forms, neovascular (wet) and atrophic (dry) …

Background/aims To describe the genetic characteristics of the cohort enrolled in the
international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and …

Accumulation of fluorescent metabolic byproducts of the visual (retinoid) cycle is associated
with photoreceptor and retinal pigment epithelial cell death in both Stargardt disease and …

Importance New outcome measures for treatment trials for Stargardt disease type 1 (STGD1)
and other macular diseases are needed. Microperimetry allows map** of light sensitivity …