scholarly journals Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice

Cytoskeleton ◽  
2015 ◽  
Vol 72 (9) ◽  
pp. 447-454 ◽  
Author(s):  
Linjing Li ◽  
Kollu Nageswara Rao ◽  
Yun Zheng-Le ◽  
Toby W. Hurd ◽  
Concepción Lillo ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Cone Photoreceptor ◽  
Sensory Cilium

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 Mechanisms of Photoreceptor Death in Retinitis Pigmentosa

Genes ◽  
2020 ◽  
Vol 11 (10) ◽  
pp. 1120
Author(s):  
Fay Newton ◽  
Roly Megaw
Keyword(s):  
Retinitis Pigmentosa ◽  
Apoptotic Cell ◽  
Gene Replacement ◽  
Innate Immune ◽  
Cone Photoreceptor ◽  
Cell Death Pathways ◽  
Retinal Photoreceptors ◽  
Photoreceptor Death ◽  
Made In

Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is characterised by the progressive loss of retinal photoreceptors. However, RP is a highly heterogeneous disease and, while much progress has been made in developing gene replacement and gene editing treatments for RP, it is also necessary to develop treatments that are applicable to all causative mutations. Further understanding of the mechanisms leading to photoreceptor death is essential for the development of these treatments. Recent work has therefore focused on the role of apoptotic and non-apoptotic cell death pathways in RP and the various mechanisms that trigger these pathways in degenerating photoreceptors. In particular, several recent studies have begun to elucidate the role of microglia and innate immune response in the progression of RP. Here, we discuss some of the recent progress in understanding mechanisms of rod and cone photoreceptor death in RP and summarise recent clinical trials targeting these pathways.

Early cone photoreceptor outer segment length shortening in RPGR X-linked retinitis pigmentosa

2020 ◽  
Author(s):  
Moreno Menghini ◽  
Jasleen K. Jolly ◽  
Anika Nanda ◽  
Laura Wood ◽  
Jasmina Cehajic-Kapetanovic ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Outer Segment ◽  
Segment Length ◽  
Cone Photoreceptor ◽  
Photoreceptor Outer Segment

Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

1997 ◽  
Vol 15 (10) ◽  
pp. 965-970 ◽  
Author(s):  
Robert M. Petters ◽  
Curtis A. Alexander ◽  
Kevin D. Wells ◽  
E. Bruce Collins ◽  
Jeffrey R. Sommer ◽  
...  
Keyword(s):  
Animal Model ◽  
Retinitis Pigmentosa ◽  
Genetically Engineered ◽  
Large Animal Model ◽  
Large Animal ◽  
Cone Photoreceptor

scholarly journals Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy

2015 ◽  
Vol 24 (22) ◽  
pp. 6446-6458 ◽  
Author(s):  
Suddhasil Mookherjee ◽  
Suja Hiriyanna ◽  
Kayleigh Kaneshiro ◽  
Linjing Li ◽  
Yichao Li ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Replacement Therapy ◽  
Knockout Mice ◽  
Gene Replacement ◽  
Cone Photoreceptor ◽  
Photoreceptor Degeneration ◽  
Gene Replacement Therapy

scholarly journals Necrotic cone photoreceptor cell death in retinitis pigmentosa

2015 ◽  
Vol 6 (12) ◽  
pp. e2038-e2038 ◽  
Author(s):  
Y Murakami ◽  
Y Ikeda ◽  
S Nakatake ◽  
J W Miller ◽  
D G Vavvas ◽  
...  
Keyword(s):  
Cell Death ◽  
Retinitis Pigmentosa ◽  
Photoreceptor Cell ◽  
Cone Photoreceptor
Sign in / Sign up

Export Citation Format

Share Document