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 …

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

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

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 …

Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …

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

Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases
(IRDs), most prominently with autosomal recessive (ar) Stargardt disease (STGD1) and ar …

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

Objectives To evaluate the long‐term biosafety and efficacy of transplantation of human
embryonic stem cells‐derived retinal pigment epithelial (hESC‐RPE) cells in early‐stage of …