Photoreceptor metabolic reprogramming: current understanding and therapeutic implications

WW Pan, TJ Wubben, CG Besirli - Communications biology, 2021 - nature.com
Acquired and inherited retinal disorders are responsible for vision loss in an increasing
proportion of individuals worldwide. Photoreceptor (PR) death is central to the vision loss …

Oxidative stress as a therapeutic target for the prevention and treatment of early age-related macular degeneration

S Jabbehdari, JT Handa - Survey of ophthalmology, 2021 - Elsevier
Age-related macular degeneration, the leading cause of irreversible visual loss among older
adults in developed countries, is a chronic, multifactorial, and progressive disease with the …

[HTML][HTML] Spectacle: an interactive resource for ocular single-cell RNA sequencing data analysis

AP Voigt, SS Whitmore, ND Lessing, AP DeLuca… - Experimental eye …, 2020 - Elsevier
Single-cell RNA sequencing has revolutionized ocular gene expression studies. This
technology has enabled researchers to identify expression signatures for rare cell types and …

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

TW Winkler, F Grassmann, C Brandl, C Kiel… - BMC medical …, 2020 - Springer
Background Advanced age-related macular degeneration (AMD) is a leading cause of
blindness. While around half of the genetic contribution to advanced AMD has been …

Molecular characteristics and spatial distribution of adult human corneal cell subtypes

AJ Ligocki, W Fury, C Gutierrez, C Adler, T Yang… - Scientific reports, 2021 - nature.com
Bulk RNA sequencing of a tissue captures the gene expression profile from all cell types
combined. Single-cell RNA sequencing identifies discrete cell-signatures based on …

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

SJ Garnai, ML Brinkmeier, B Emery, TS Aleman… - PLoS …, 2019 - journals.plos.org
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes
with relatively normal anatomy, a high hyperopic refractive error, and frequent association …

Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants in MT-CYB, MT-ND4 Genes and Haplogroups

V Lo Faro, IM Nolte, JB Ten Brink, H Snieder… - Frontiers in …, 2021 - frontiersin.org
Background and purpose: Primary open-angle glaucoma (POAG) is an optic neuropathy
characterized by death of retinal ganglion cells and atrophy of the optic nerve head. The …

Vision-related convergent gene losses reveal SERPINE3's unknown role in the eye

H Indrischek, J Hammer, A Machate, N Hecker… - Elife, 2022 - elifesciences.org
Despite decades of research, knowledge about the genes that are important for
development and function of the mammalian eye and are involved in human eye disorders …

TRPM3_miR-204: a complex locus for eye development and disease

A Shiels - Human genomics, 2020 - Springer
First discovered in a light-sensitive retinal mutant of Drosophila, the transient receptor
potential (TRP) superfamily of non-selective cation channels serve as polymodal cellular …

Eyes on CHARGE syndrome: Roles of CHD7 in ocular development

LA Krueger, AC Morris - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
The development of the vertebrate visual system involves complex morphogenetic
interactions of cells derived from multiple embryonic lineages. Disruptions in this process …