scholarly journals Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”

2013 ◽  
Vol 54 (1) ◽  
pp. 898 ◽  
Author(s):  
Ajoy Vincent ◽  
Tom Wright ◽  
Yaiza Garcia-Sanchez ◽  
Marsha Kisilak ◽  
Melanie Campbell ◽  
...  
Keyword(s):  
Cone Dystrophy ◽  
Cone Photoreceptor ◽  
Phenotypic Characteristics ◽  
Rod Electroretinogram ◽  
Photoreceptor Mosaic

scholarly journals Assessing the Cone Photoreceptor Mosaic in Eyes with Pseudodrusen and Soft Drusen In Vivo Using Adaptive Optics Imaging

Ophthalmology ◽  
2014 ◽  
Vol 121 (2) ◽  
pp. 545-551 ◽  
Author(s):  
Sarah Mrejen ◽  
Taku Sato ◽  
Christine A. Curcio ◽  
Richard F. Spaide
Keyword(s):  
Adaptive Optics ◽  
Cone Photoreceptor ◽  
Adaptive Optics Imaging ◽  
Soft Drusen ◽  
Photoreceptor Mosaic

Rod and Cone Photoreceptor Function in Patients with Cone Dystrophy

2004 ◽  
Vol 45 (1) ◽  
pp. 275 ◽  
Author(s):  
Karen Holopigian ◽  
Vivienne C. Greenstein ◽  
William Seiple ◽  
Donald C. Hood ◽  
Ronald E. Carr
Keyword(s):  
Cone Dystrophy ◽  
Cone Photoreceptor

scholarly journals SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

2020 ◽  
Vol 29 (18) ◽  
pp. 2989-3002 ◽  
Author(s):  
Helen J Kuht ◽  
Jinu Han ◽  
Gail D E Maconachie ◽  
Sung Eun Park ◽  
Seung-Tae Lee ◽  
...  
Keyword(s):  
Outer Segment ◽  
Transmembrane Domain ◽  
Retinal Development ◽  
Anterior Segment ◽  
Cone Photoreceptor ◽  
Photoreceptor Outer Segment ◽  
Multi Centre Study ◽  
Photoreceptor Layer ◽  
Foveal Hypoplasia

Abstract Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a custom-targeted next generation sequencing (NGS) gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. We report 16 novel SLC38A8 mutations. The sixth transmembrane domain is most frequently disrupted by missense SLC38A8 mutations. Ninety percent of our cases were initially misdiagnosed as PAX6-related phenotype or ocular albinism prior to NGS. We characterized the retinal development in vivo in patients with SLC38A8 mutations using high-resolution optical coherence tomography. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity. Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal development at an earlier stage resulting in a more under-developed retina and severe phenotype.

scholarly journals Sensing through Non-Sensing Ocular Ion Channels

2020 ◽  
Vol 21 (18) ◽  
pp. 6925
Author(s):  
Meha Kabra ◽  
Bikash Ranjan Pattnaik
Keyword(s):  
Ion Channels ◽  
Visual Processing ◽  
Signal Transmission ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Cone Dystrophy ◽  
Wide Range ◽  
The Impact

Ion channels are membrane-spanning integral proteins expressed in multiple organs, including the eye. In the eye, ion channels are involved in various physiological processes, like signal transmission and visual processing. A wide range of mutations have been reported in the corresponding genes and their interacting subunit coding genes, which contribute significantly to an array of blindness, termed ocular channelopathies. These mutations result in either a loss- or gain-of channel functions affecting the structure, assembly, trafficking, and localization of channel proteins. A dominant-negative effect is caused in a few channels formed by the assembly of several subunits that exist as homo- or heteromeric proteins. Here, we review the role of different mutations in switching a “sensing” ion channel to “non-sensing,” leading to ocular channelopathies like Leber’s congenital amaurosis 16 (LCA16), cone dystrophy, congenital stationary night blindness (CSNB), achromatopsia, bestrophinopathies, retinitis pigmentosa, etc. We also discuss the various in vitro and in vivo disease models available to investigate the impact of mutations on channel properties, to dissect the disease mechanism, and understand the pathophysiology. Innovating the potential pharmacological and therapeutic approaches and their efficient delivery to the eye for reversing a “non-sensing” channel to “sensing” would be life-changing.

scholarly journals Outer membrane characteristics of Salmonella enteritidis phage type 4 growing in chickens

1993 ◽  
Vol 111 (3) ◽  
pp. 449-454 ◽  
Author(s):  
H. Chart ◽  
D. Conway ◽  
B. Rowe
Keyword(s):  
Outer Membrane ◽  
Salmonella Enteritidis ◽  
Outer Membrane Proteins ◽  
Phage Type ◽  
Virulence Plasmid ◽  
Uptake System ◽  
Ferric Ions ◽  
Phenotypic Characteristics ◽  
A Subunit

SummaryStrains of Salmonella enteritidis belonging to phage type 4 (SE4) were grown in the peritoneal cavities of chickens, and without subculture on laboratory media examined for inducible in vivo phenotypic characteristics. These bacteria expressed three major outer membrane proteins (OMPs) of 33, 35 and 36 kilodaltons (kDa), and iron regulated OMPs of 74, 78 and 81 kDa. Bacteria growing in vivo did not express flagella, or fimbriae with a subunit molecular mass of 14 kDa (14 kDa fimbriae). Two OMPs of 55 and 23 kDa, expressed during culture in nutrient broth, were repressed during growth in chickens. Possession of a 38 MDa ‘mouse virulence’ plasmid did not influence the expression of OMPs, flagella or fimbriae. It was concluded that strains of SE4 growing in chicken tissues, use an enterobactin mediated iron uptake system to obtain ferric ions, do not express flagella or 14 kDa fimbriae and appear not to express novel OMPs involved in survival in vivo.

scholarly journals The Cone Photoreceptor Mosaic in Aniridia

2019 ◽  
Vol 3 (6) ◽  
pp. 523-534 ◽  
Author(s):  
Hilde R. Pedersen ◽  
Maureen Neitz ◽  
Stuart J. Gilson ◽  
Erlend C.S. Landsend ◽  
Øygunn Aas Utheim ◽  
...  
Keyword(s):  
Cone Photoreceptor ◽  
Photoreceptor Mosaic
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