Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
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 …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
Risk factors and biomarkers of age-related macular degeneration
NG Lambert, H ElShelmani, MK Singh… - Progress in retinal and …, 2016 - Elsevier
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 …
can affect or predict disease incidence. As age-related macular degeneration (AMD) is the …
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
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 …
increasingly common cause of blindness. This genome-wide association meta-analysis in …
Soft drusen in age-related macular degeneration: biology and targeting via the oil spill strategies
CA Curcio - Investigative ophthalmology & visual science, 2018 - iovs.arvojournals.org
AMD is a major cause of legal blindness in older adults approachable through
multidisciplinary research involving human tissues and patients. AMD is a vascular …
multidisciplinary research involving human tissues and patients. AMD is a vascular …
[HTML][HTML] The tissue inhibitors of metalloproteinases (TIMPs): an ancient family with structural and functional diversity
K Brew, H Nagase - Biochimica et biophysica acta (BBA)-molecular cell …, 2010 - Elsevier
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 …
and the human genome contains four paralogous genes encoding TIMPs 1 to 4. TIMPs were …
Drusen proteome analysis: an approach to the etiology of age-related macular degeneration
Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on
Bruch's membrane and are risk factors for develo** age-related macular degeneration …
Bruch's membrane and are risk factors for develo** age-related macular degeneration …
Age-related macular degeneration: etiology, pathogenesis, and therapeutic strategies
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 …
among those aged over 65 in the United States, western Europe, Australia, and Japan …
Measuring the contributions of basal laminar deposit and Bruch's membrane in age-related macular degeneration
AA Sura, L Chen, JD Messinger… - … & visual science, 2020 - iovs.arvojournals.org
Purpose: Basal laminar deposit (BLamD) is a consistent finding in age-related macular
degeneration (AMD). We quantified BLamD thickness, appearance, and topography in eyes …
degeneration (AMD). We quantified BLamD thickness, appearance, and topography in eyes …
Current concepts in the pathogenesis of age-related macular degeneration
MA Zarbin - Archives of ophthalmology, 2004 - jamanetwork.com
Objective To review and synthesize information concerning the pathogenesis ofage-related
macular degeneration (AMD). Methods Review of the English-language literature. Results …
macular degeneration (AMD). Methods Review of the English-language literature. Results …
Clinical application of exome sequencing in undiagnosed genetic conditions
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 …
diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a …