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 …

When it first appeared, multimodal fundus imaging revolutionized the diagnostic workup and
provided extremely useful new insights into the pathogenesis of fundus diseases. The recent …

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 …

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 …

With the identification of novel targets, the number of interventional clinical trials in
ophthalmology has increased. Visual acuity has for a long time been considered the gold …

Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are
characterised by bilateral symmetrical central visual loss. Advances in genetic testing over …

Introduction: Dry age-related macular degeneration (AMD) and Stargardt Macular Dystrophy
(STGD1) result in vision loss due to progressive atrophy of the macula and lack of effective …

Background Although human embryonic stem cells (hESCs) have been considered a
potential therapeutic option for regenerative medicine, there are some concerns regarding …

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

Background Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …