Search results for "Retinal degeneration"

Retinol and retinyl esters in pigment epithelium of rats with inherited retinal degeneration

1976

A comparative study of the retinol and retinyl ester concentrations was performed in the retinal pigment epithelium of the normal and affected rats. Our findings indicate that in dystrophic rat retinol content increases, whereas the amount of retinyl esters is always lower than normal. An hypothesis can be made on the deficiency of enzymic activities which regulate retinol retinol and retinyl esters levels in the pigment epithelium.

Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rho–/– mouse

2015

As gene therapies for various forms of retinal degeneration progress toward human clinical trial, it will be essential to have a repertoire of safe and efficient vectors for gene delivery to the target cells. Recombinant adeno-associated virus (AAV) serotype 2/2 has been shown to be well tolerated in the human retina and has provided efficacy in human patients for some inherited retinal degenerations. In this study, the AAV2/8 and AAV2/rh10 serotypes have been compared as a means of gene delivery to mammalian photoreceptor cells using a photoreceptor specific promoter for transgene expression. Both AAV2/8 and AAV2/rh10 provided rescue of the retinal degeneration present in the rhodopsin kno…

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher …

2006

Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to three clinical USH types, namely USH1A-G, USH2A-C, USH3A (Davenport, S.L.H., Omenn, G.S., 1977. The heterogeneity of Usher syndrome. Vth Int. Conf. Birth Defects, Montreal; Petit, C., 2001. Usher syndrome: from genetics to pathogenesis. Annu. Rev. Genomics Hum. Genet. 2, 271-297). Mutations in USH type 1 genes cause the most severe form of USH. In USH1 patients, congenital deafness is combined with a pre-pubertal onset of retinitis pigmentosa (RP) and severe vestibular dysfunctions. Those with USH2 have moderate to…

The Usher syndrome 1G protein SANS participates in the transport of ciliary cargo in photoreceptor cells

2012

Human Usher syndrome (USH) is the most common form of combined deaf-blindness, characterized by profound congenital deafness, constant vestibular dysfunction and pre-pubertal onset of retinitis pigmentosa. The USH1G protein SANS (scaffold protein containing ankyrin repeats and SAM domain) is associated with microtubules and mediates a transport related periciliary protein network in photoreceptor cells. Here we aim to enlighten the involvement of SANS in ciliary transport of photoreceptor cells by identifying proteins associated with SANS in transport complexes. In Y2H screen of retinal cDNA library we identified the direct binding of SANS to dynactin-1 (p150Glued), a subunit of the dynacti…

Retinal neurodegeneration and an innovative nanostructured approach in an iron overload in vivo model

2020

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…

Variations of OCT measurements corrected for the magnification effect according to axial length and refractive error in children

2018

Purpose: The aim of this paper was to examine the distribution of macular, retinal nerve fiber layer (RNFL) thickness and optic disc parameters of myopic and hyperopic eyes in comparison with emmetropic control eyes and to investigate their variation according to axial length (AL) and spherical equivalent (SE) in healthy children. Methods: This study included 293 pairs of eyes of 293 children (145 boys and 148 girls), ranging in age from 6 to 17 years. Subjects were divided according to SE in control (emmetropia, 99 children), myopia (100 children) and hyperopia (94 children) groups and according to axial AL in 68 short ([Formula: see text]22.00[Formula: see text]mm, 68), medium (from [For…