scholarly journals A Pro23His Mutation Alters Prenatal Rod Photoreceptor Morphology in a Transgenic Swine Model of Retinitis Pigmentosa

2014 ◽  
Vol 55 (4) ◽  
pp. 2452 ◽  
Author(s):  
Patrick A. Scott ◽  
Juan P. Fernandez de Castro ◽  
Henry J. Kaplan ◽  
Maureen A. McCall
Keyword(s):  
Retinitis Pigmentosa ◽  
Swine Model ◽  
Rod Photoreceptor ◽  
Transgenic Swine

scholarly journals Cone Photoreceptors Develop Normally in the Absence of Functional Rod Photoreceptors in a Transgenic Swine Model of Retinitis Pigmentosa

2014 ◽  
Vol 55 (4) ◽  
pp. 2460 ◽  
Author(s):  
Juan P. Fernandez de Castro ◽  
Patrick A. Scott ◽  
James W. Fransen ◽  
James Demas ◽  
Paul J. DeMarco ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Swine Model ◽  
Cone Photoreceptors ◽  
Rod Photoreceptors ◽  
Transgenic Swine

Ayurvedic management of Retinitis Pigmentosa (Doshandha) - A Case Study

2017 ◽  
Vol 2 (05) ◽  
Author(s):  
Anju D. ◽  
Pushpa Raj Poudel ◽  
Ajoy Viswam ◽  
Ashwini M. J.
Keyword(s):  
Retinitis Pigmentosa ◽  
Low Vision ◽  
Symptomatic Relief ◽  
Retinal Dystrophy ◽  
Treatment Protocol ◽  
Signs And Symptoms ◽  
Photoreceptor Cells ◽  
Rod Photoreceptor ◽  
Night Time ◽  
Initial Symptoms

Retinitis pigmentosa (RP) is an inherited, degenerative eye disease that causes severe vision impairment due to the progressive degeneration of rod photoreceptor cells in retina. This form of retinal dystrophy manifests initial symptoms independentof age; thus, RP diagnosis occurs anywhere from early infancy to late adulthood. This primary pigmentary retinal dystrophy is a hereditary disorder predominantly affecting the rods more than the cones. The main classical triads of retinitis pigmentosa are arteriolar attenuation, Retinal bone spicule pigmentation and Waxy disc pallor. The main treatment of retinitis pigmentosa is by using Low vision aids (LVA) and Genetic counseling. As such a complete cure for retinitis pigmentosa is not present. So a treatment protocol has to be adopted that helps in at least the symptomatic relief. In Ayurveda, the signs and symptoms of this can be compared with the Lakshanas of Doshandha which is one among the Dristigata Roga. It is considered as a diseased condition in which sunset will obliterate the Dristi Mandala and makes the person blind at night time. During morning hours the rising sunrays will disperse the accumulated Dosas from Dristi to clear vision. This disease resembles Kaphajatimira in its pathogenesis, but the night blindness is the special feature. Since the disease is purely Kaphaja, a treatment attempt is planned in Kaphara and Brimhana line. The present paper discusses a case of retinitis pigmentosa and it’s Ayurvedic Treatment.

scholarly journals Targeting of the NRL Pathway as a Therapeutic Strategy to Treat Retinitis Pigmentosa

2020 ◽  
Vol 9 (7) ◽  
pp. 2224 ◽  
Author(s):  
Spencer M. Moore ◽  
Dorota Skowronska-Krawczyk ◽  
Daniel L. Chao
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Therapeutic Strategy ◽  
Leucine Zipper ◽  
Retinal Dystrophy ◽  
Rod Photoreceptor ◽  
Cone Photoreceptor ◽  
Future Directions ◽  
Inherited Retinal Dystrophy ◽  
Visual Acuity Loss

Retinitis pigmentosa (RP) is an inherited retinal dystrophy (IRD) with a prevalence of 1:4000, characterized by initial rod photoreceptor loss and subsequent cone photoreceptor loss with accompanying nyctalopia, visual field deficits, and visual acuity loss. A diversity of causative mutations have been described with autosomal dominant, autosomal recessive, and X-linked inheritance and sporadic mutations. The diversity of mutations makes gene therapy challenging, highlighting the need for mutation-agnostic treatments. Neural leucine zipper (NRL) and NR2E3 are factors important for rod photoreceptor cell differentiation and homeostasis. Germline mutations in NRL or NR2E3 leads to a loss of rods and an increased number of cones with short wavelength opsin in both rodents and humans. Multiple groups have demonstrated that inhibition of NRL or NR2E3 activity in the mature retina could endow rods with certain properties of cones, which prevents cell death in multiple rodent RP models with diverse mutations. In this review, we summarize the literature on NRL and NR2E3, therapeutic strategies of NRL/NR2E3 modulation in preclinical RP models, as well as future directions of research. In summary, inhibition of the NRL/NR2E3 pathway represents an intriguing mutation agnostic and disease-modifying target for the treatment of RP.

scholarly journals The Role of Subunit Assembly in Peripherin-2 Targeting to Rod Photoreceptor Disk Membranes and Retinitis Pigmentosa

2003 ◽  
Vol 14 (8) ◽  
pp. 3400-3413 ◽  
Author(s):  
Christopher J.R. Loewen ◽  
Orson L. Moritz ◽  
Beatrice M. Tam ◽  
David S. Papermaster ◽  
Robert S. Molday
Keyword(s):  
Retinitis Pigmentosa ◽  
Critical Role ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Rod Photoreceptor ◽  
Wild Type ◽  
Photoreceptor Outer Segment ◽  
Negative Effect ◽  
Retinal Degenerative Diseases ◽  
Green Fluorescent

Peripherin-2 is a member of the tetraspanin family of membrane proteins that plays a critical role in photoreceptor outer segment disk morphogenesis. Mutations in peripherin-2 are responsible for various retinal degenerative diseases including autosomal dominant retinitis pigmentosa (ADRP). To identify determinants required for peripherin-2 targeting to disk membranes and elucidate mechanisms underlying ADRP, we have generated transgenic Xenopus tadpoles expressing wild-type and ADRP-linked peripherin-2 mutants as green fluorescent fusion proteins in rod photoreceptors. Wild-type peripherin-2 and P216L and C150S mutants, which assemble as tetramers, targeted to disk membranes as visualized by confocal and electron microscopy. In contrast the C214S and L185P mutants, which form homodimers, but not tetramers, were retained in the rod inner segment. Only the P216L disease mutant induced photoreceptor degeneration. These results indicate that tetramerization is required for peripherin-2 targeting and incorporation into disk membranes. Tetramerization-defective mutants cause ADRP through a deficiency in wild-type peripherin-2, whereas tetramerization-competent P216L peripherin-2 causes ADRP through a dominant negative effect, possibly arising from the introduction of a new oligosaccharide chain that destabilizes disks. Our results further indicate that a checkpoint between the photoreceptor inner and outer segments allows only correctly assembled peripherin-2 tetramers to be incorporated into nascent disk membranes.

Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse

10.1038/13508 ◽  
1999 ◽  
Vol 5 (10) ◽  
pp. 1183-1187 ◽  
Author(s):  
Maria Frasson ◽  
Jose A. Sahel ◽  
Michel Fabre ◽  
Manuel Simonutti ◽  
Henri Dreyfus ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Calcium Channel ◽  
Calcium Channel Blocker ◽  
Channel Blocker ◽  
Rod Photoreceptor

scholarly journals Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

2009 ◽  
Vol 29 (31) ◽  
pp. 9748-9760 ◽  
Author(s):  
T. Yamashita ◽  
J. Liu ◽  
J. Gao ◽  
S. LeNoue ◽  
C. Wang ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Rod Photoreceptor

scholarly journals Generation of a Stable Transgenic Swine Model Expressing a Porcine Histone 2B-eGFP Fusion Protein for Cell Tracking and Chromosome Dynamics Studies

PLoS ONE ◽  
2017 ◽  
Vol 12 (1) ◽  
pp. e0169242 ◽  
Author(s):  
Renan B. Sper ◽  
Sehwon Koh ◽  
Xia Zhang ◽  
Sean Simpson ◽  
Bruce Collins ◽  
...  
Keyword(s):  
Fusion Protein ◽  
Cell Tracking ◽  
Swine Model ◽  
Chromosome Dynamics ◽  
Egfp Fusion Protein ◽  
Transgenic Swine
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