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 …

Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

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 retinal diseases (IRDs), defined by dysfunction or progressive loss of
photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Retinal cell survival requires an equilibrium between oxygen, reactive oxygen species, and
antioxidant molecules that counteract oxidative stress damage. Oxidative stress alters cell …

The retinal pigment epithelium-photoreceptor interphase is renewed each day in a stunning
display of cellular interdependence. While photoreceptors use photosensitive pigments to …

Ceramide is located at a key hub in the sphingolipid metabolic pathway and also acts as an
important cellular signaling molecule. Ceramide contains one acyl chain which is attached …

Retinitis pigmentosa (RP) is an inherited retinopathy. Nevertheless, non-genetic biological
factors play a central role in its pathogenesis and progression, including inflammation …

Oxidative stress (OS) refers to an imbalance between free radicals (FRs), namely highly
reactive molecules normally generated in our body by several pathways, and intrinsic …