Pleiotropy refers to the phenomenon of one gene or one mutation affecting multiple
phenotypic traits. While the concept of pleiotropy is as old as Mendelian genetics, functional …

The contributions of genetics research to the science of normal and defective color vision
over the previous few decades are reviewed emphasizing the developments in the 25years …

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 …

The rod photoreceptors are implicated in a number of devastating retinal diseases.
However, routine imaging of these cells has remained elusive, even with the advent of …

A quarter century ago, we were limited to a macroscopic view of the retina inside the living
eye. Since then, new imaging technologies, including confocal scanning laser …

The human retina is a uniquely accessible tissue. Tools like scanning laser ophthalmoscopy
and spectral domain-optical coherence tomography provide clinicians with remarkably clear …

The interplay of transcription factors and cis-regulatory elements (CREs) orchestrates the
dynamic and diverse genetic programs that assemble the human central nervous system …

Purpose: To evaluate how metrics used to describe the cone mosaic change in response to
simulated photoreceptor undersampling (ie, cell loss or misidentification). Methods: Using …

Purpose. To assess the repeatability and measurement error associated with cone density
and nearest neighbor distance (NND) estimates in images of the parafoveal cone mosaic …

Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a
microscopic scale, thereby helping to improve our understanding of retinal diseases. An …