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 …

A biomarker can be a substance or structure measured in body parts, fluids or products that
can affect or predict disease incidence. As age-related macular degeneration (AMD) is the …

Refractive errors, including myopia, are the most frequent eye disorders worldwide and an
increasingly common cause of blindness. This genome-wide association meta-analysis in …

AMD is a major cause of legal blindness in older adults approachable through
multidisciplinary research involving human tissues and patients. AMD is a vascular …

Tissue inhibitors of metalloproteinases (TIMPs) are widely distributed in the animal kingdom
and the human genome contains four paralogous genes encoding TIMPs 1 to 4. TIMPs were …

Purpose: Basal laminar deposit (BLamD) is a consistent finding in age-related macular
degeneration (AMD). We quantified BLamD thickness, appearance, and topography in eyes …

Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on
Bruch's membrane and are risk factors for developing age-related macular degeneration …

Background There is considerable interest in the use of next-generation sequencing to help
diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a …

Age-related macular degeneration is the principal cause of registered legal blindness
among those aged over 65 in the United States, western Europe, Australia, and Japan …

Mutations in the gene BEST1 are causally associated with as many as five clinically distinct
retinal degenerative diseases, which are collectively referred to as the “bestrophinopathies” …