Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …

High-acuity vision in primates, including humans, is mediated by a small central retinal
region called the fovea. As more accessible organisms lack a fovea, its specialized function …

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 …

Inherited and age-related retinal degeneration is the hallmark of a large group of
heterogeneous diseases and is the main cause of untreatable blindness today. Genetic …

Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are
both genetically and phenotypically heterogeneous, and characterised clinically by severe …

Age-related macular degeneration (AMD) is a leading cause of vision loss. To better
understand disease pathogenesis and identify causal genes in GWAS loci for AMD risk, we …

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 …

Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical
practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the …