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

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 …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

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 …

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …

Inflammation underpins and contributes to the pathogenesis of many retinal degenerative
diseases. The recruitment and activation of both resident microglia and recruited …

Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous
group of inherited retinal diseases characterised by cone photoreceptor degeneration …

Genome-editing technologies have ushered in a new era in gene therapy, providing novel
therapeutic strategies for a wide range of diseases, including both genetic and nongenetic …

" Due to the generous representation of the afferent visual system within the brain,
neurological disease may disrupt vision as a presenting symptom or as a secondary effect of …

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