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 …

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

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …

Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …

Adaptive optics scanning light ophthalmoscopy (AOSLO) allows visualization of the living
human retina with exquisite single-cell resolution. This technology has improved our …

All vertebrates share a canonical retina with light-sensitive photoreceptors in the outer
retina. These photoreceptors are of two kinds: rods and cones, adapted to low and bright …

Common data models solve many challenges of standardizing electronic health record
(EHR) data but are unable to semantically integrate all of the resources needed for deep …

Adaptive optics (AO) imaging enables direct, objective assessments of retinal cells.
Applications of AO show great promise in advancing our understanding of the etiology of …

The fovea is a highly specialized region of the central retina, defined by an absence of inner
retinal layers and the accompanying vasculature, an increased density of cone …

Purpose To review and describe in detail the clinical course, functional and anatomic
characteristics of RP2-associated retinal degeneration. Design Retrospective case series …