Functional architecture of the retina: development and disease
M Hoon, H Okawa, L Della Santina… - Progress in retinal and eye …, 2014 - Elsevier
Abstract Structure and function are highly correlated in the vertebrate retina, a sensory tissue
that is organized into cell layers with microcircuits working in parallel and together to encode …
that is organized into cell layers with microcircuits working in parallel and together to encode …
Congenital stationary night blindness: an analysis and update of genotype–phenotype correlations and pathogenic mechanisms
C Zeitz, AG Robson, I Audo - Progress in retinal and eye research, 2015 - Elsevier
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness
NS Peachey, TA Ray, R Florijn, LB Rowe… - The American Journal of …, 2012 - cell.com
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically
heterogeneous group of retinal disorders characterized by nonprogressive impairment of …
heterogeneous group of retinal disorders characterized by nonprogressive impairment of …
Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness
ML Scalabrino, SL Boye, KMH Fransen… - Human molecular …, 2015 - academic.oup.com
Adeno-associated virus (AAV) effectively targets therapeutic genes to photoreceptors,
pigment epithelia, Müller glia and ganglion cells of the retina. To date, no one has shown the …
pigment epithelia, Müller glia and ganglion cells of the retina. To date, no one has shown the …
Zebrafish models of retinal disease
BA Link, RF Collery - Annual review of vision science, 2015 - annualreviews.org
Visual defects affect a large proportion of humanity, have a significant negative impact on
quality of life, and cause significant economic burden. The wide variety of visual disorders …
quality of life, and cause significant economic burden. The wide variety of visual disorders …
Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness
RG Gregg, M Kamermans, J Klooster… - Journal of …, 2007 - journals.physiology.org
Mutations in the NYX gene that encodes the protein nyctalopin cause congenital stationary
night blindness type 1. In no b-wave (nob) mice, a mutation in Nyx results in a functional …
night blindness type 1. In no b-wave (nob) mice, a mutation in Nyx results in a functional …
The dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteins
AJ Mercer, WB Thoreson - Visual neuroscience, 2011 - cambridge.org
Rod and cone photoreceptors possess ribbon synapses that assist in the transmission of
graded light responses to second-order bipolar and horizontal cells of the vertebrate retina …
graded light responses to second-order bipolar and horizontal cells of the vertebrate retina …
An overview towards zebrafish larvae as a model for ocular diseases
Despite the obvious morphological differences in the visual system, zebrafish share a similar
architecture and components of the same embryonic origin as humans. The zebrafish retina …
architecture and components of the same embryonic origin as humans. The zebrafish retina …
LRIT 3 is essential to localize TRPM 1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation
Mutations in LRIT 3 lead to complete congenital stationary night blindness (cCSNB). The
exact role of LRIT 3 in ON‐bipolar cell signaling cascade remains to be elucidated …
exact role of LRIT 3 in ON‐bipolar cell signaling cascade remains to be elucidated …