The endoplasmic reticulum (ER) functions as a quality-control organelle for protein
homeostasis, or “proteostasis”. The protein quality control systems involve ER-associated …

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

Background The retina, as part of the central nervous system (CNS) with limited capacity for
self-reparation and regeneration in mammals, is under cumulative environmental stress due …

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 …

Twenty-five years ago, adaptive optics (AO) was combined with fundus photography,
thereby initiating a new era in the field of ophthalmic imaging. Since that time, clinical …

Proteasomes are the central proteolytic machines that are critical for breaking down most of
the damaged and abnormal proteins in human cells. Although universally applicable drugs …

Endoplasmic reticulum (ER) stress and Unfolded Protein Response (UPR) signaling
promote the pathology of many human diseases. Loss-of-function variants of the UPR …

The endoplasmic reticulum (ER) is the largest intracellular organelle carrying out a broad
range of important cellular functions including protein biosynthesis, folding, and trafficking …

Glaucoma is the leading cause of irreversible blindness worldwide, and the burden of the
disease continues to grow as the global population ages. Currently, the only treatment …

Purpose: To perform deep phenotyping of subjects with PDE6C achromatopsia and
examine disease natural history. Methods: Eight subjects with disease-causing variants in …