Results 81 to 90 of about 42,890 (207)

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. [PDF]

, 2013
Usher 1 patients are born profoundly deaf and then develop retinal degeneration. Thus they are readily identified before the onset of retinal degeneration, making gene therapy a viable strategy to prevent their blindness.
Boye, S, Boye, SE, Chiodo, V, Dyka, F, Fofo, H, Hauswirth, WW, Lopes, VS, Louie, CM, Williams, DS   +8 more
core   +1 more source

Light propagation and capture in cone photoreceptors

Biomedical Optics Express, 2018
The light capturing properties of cone photoreceptors create the elementary signals that form the basis of vision. Variation in the amplitude of individual cone signals has been found physiologically as part of normal retinal circuit processing. Less well characterized is how cone signals may vary due to purely optical properties. We present a model of
Alexander Meadway, Lawrence C. Sincich
openaire   +2 more sources

Human cone photoreceptor dependence on RPE65 isomerase [PDF]

Proceedings of the National Academy of Sciences, 2007
The visual (retinoid) cycle, the enzymatic pathway that regenerates chromophore after light absorption, is located primarily in the retinal pigment epithelium (RPE) and is essential for rod photoreceptor survival. Whether this pathway also is essential for cone photoreceptor survival is unknown, and there are no data from man or monkey to ...
Samuel G, Jacobson, Tomas S, Aleman, Artur V, Cideciyan, Elise, Heon, Marcin, Golczak, William A, Beltran, Alexander, Sumaroka, Sharon B, Schwartz, Alejandro J, Roman, Elizabeth A M, Windsor, James M, Wilson, Gustavo D, Aguirre, Edwin M, Stone, Krzysztof, Palczewski   +13 more
openaire   +2 more sources

Genetic Deletion of Zebrafish Rab28 Causes Defective Outer Segment Shedding, but Not Retinal Degeneration

Frontiers in Cell and Developmental Biology, 2020
The photoreceptor outer segment is the canonical example of a modified and highly specialized cilium, with an expanded membrane surface area in the form of disks or lamellae for efficient light detection.
Stephen P. Carter, Stephen P. Carter, Ailís L. Moran, Ailís L. Moran, David Matallanas, Gavin J. McManus, Oliver E. Blacque, Oliver E. Blacque, Breandán N. Kennedy, Breandán N. Kennedy   +9 more
doaj   +1 more source

Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.

PLoS ONE, 2011
Genetic mutations are frequently associated with diverse phenotypic consequences, which limits the interpretation of the consequence of a variation in patients.
Suresh B Patil, Toby W Hurd, Amiya K Ghosh, Carlos A Murga-Zamalloa, Hemant Khanna   +4 more
doaj   +1 more source

Photoreceptor Outer Segment-like Structures in Long-Term 3D Retinas from Human Pluripotent Stem Cells. [PDF]

, 2017
The retinal degenerative diseases, which together constitute a leading cause of hereditary blindness worldwide, are largely untreatable. Development of reliable methods to culture complex retinal tissues from human pluripotent stem cells (hPSCs) could ...
Angueyra, Juan M, Ball, John, Grebe, Rhonda, Jones, Bryan W, Kim, Catherine, Li, Wei, Maruotti, Julien A, Sripathi, Srinivasa R, Wahlin, Karl J, Zack, Donald J   +9 more
core   +1 more source

Non-linearities in the Rod and Cone Photoreceptor Inputs to the Afferent Pupil Light Response

Frontiers in Neurology, 2018
Purpose: To assess the nature and extent of non-linear processes in pupil responses using rod- and cone-isolating visual beat stimuli.Methods: A four-primary photostimulating method based on the principle of silent substitution was implemented to ...
Pablo Alejandro Barrionuevo, J. Jason McAnany, Andrew J. Zele, Dingcai Cao   +3 more
doaj   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Acute Zonal Cone Photoreceptor Outer Segment Loss

JAMA Ophthalmology, 2017
The diagnostic path presented narrows down the cause of acute vision loss to the cone photoreceptor outer segment and will refocus the search for the cause of similar currently idiopathic conditions.To describe the structural and functional associations found in a patient with acute zonal occult photoreceptor loss.A case report of an adolescent boy ...
Tomas S, Aleman, Harpal S, Sandhu, Leona W, Serrano, Anastasia, Traband, Marisa K, Lau, Grazyna, Adamus, Robert A, Avery   +6 more
openaire   +3 more sources

The Formation and Renewal of Photoreceptor Outer Segments

Cells
The visual system is essential for humans to perceive the environment. In the retina, rod and cone photoreceptor neurons are the initial sites where vision forms.
Jingjin Xu, Chengtian Zhao, Yunsi Kang
doaj   +1 more source