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; MIM 248200) is the most prevalent inherited macular dystrophy
and is associated with disease-causing sequence variants in the gene ABCA4. Significant …

Emerging evidence indicates that the autofluorescent pigments that accumulate as
lipofuscin in retinal pigment epithelial (RPE) cells may reach levels that contribute to a …

Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically
heterogeneous diseases that affect approximately 1 in 3000 people (> 2 million people …

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …

ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters that is
preferentially localized along the rim region of rod and cone photoreceptor outer segment …

Purpose To describe the clinical and molecular characteristics of patients with childhood-
onset Stargardt disease (STGD). Design Retrospective case series. Participants Forty-two …

OBJECTIVE: To describe the genotype and phenotype of patients with a late-onset
Stargardt's disease (STGD1). DESIGN: Retrospective case series. PARTICIPANTS: Twenty …

Objective To describe the phenotype and genotype of patients with early-onset Stargardt
disease. Design Retrospective cohort study. Participants Fifty-one Stargardt patients with …

PURPOSE: To review the evidence that exists concerning the pathogenesis of lesions in late
age-related macular disease (AMD). DESIGN: Review of the literature. METHODS: A review …