Search results for "retinal degenerations"

Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline

2020

Mitochondria are subject to continuous oxidative stress stimuli that, over time, can impair their genome and lead to several pathologies, like retinal degenerations. Our main purpose was the identification of mtDNA variants that might be induced by intense oxidative stress determined by N-retinylidene-N-retinylethanolamine (A2E), together with molecular pathways involving the genes carrying them, possibly linked to retinal degeneration. We performed a variant analysis comparison between transcriptome profiles of human retinal pigment epithelial (RPE) cells exposed to A2E and untreated ones, hypothesizing that it might act as a mutagenic compound towards mtDNA. To optimize analysis, we propo…

Circulating markers of retinal and optic nerve lipids

2013

Purpose Blood lipids are frequently used as a surrogate of lipid composition of peripheral tissues. Even if it is well accepted, such a relationship has never been clearly demonstrated for the eye. The aim of this study was to determine in human samples whether a lipidomic approach based on red blood cells could reveal associations between circulating and ocular lipid profiles. Methods Red blood cells, retinas and optic nerves were collected from 9 human donors. The lipidomic analyses on these tissues were done by both, gas chromatography and liquid chromatography coupled to an electrospray ionization source-mass spectrometer (LC-ESI-MS/MS). Results Gas chromatographic approach did not show…

Role of Oxidative Stress in Aging of the Retina in the ApoB100,LDLR-/- Mouse, a Murine Model of Aging of the Human Retina

2009

Neurophysiologic Testing in Infants With Usher Syndrome Type 1

2009

Purpose: Usher syndrome type 1 needs to be diagnosed at early age, when speech therapy and cochlear implantation can stimulate communication in a deaf child who will confront an additional visual handicap. Molecular diagnosis is not routinely available. Visual function tests are not easily performed in young children. Before the age of six years, progressive retinal degeneration does not always show fundoscopic changes and few data are available regarding neurophysiologic abnormalities. This study was designed to describe electroretinogram (ERG) and visual evoked potentials (VEP) in a series of fourteen children with Usher syndrome type I.Methods: Monocular ERG and binocular VEP were perfor…