Changes in aquaporin-4 and Kir4.1 expression in rats with inherited retinal dystrophy

2016 ◽  
Vol 148 ◽  
pp. 33-44 ◽  
Author(s):  
S. Lassiale ◽  
F. Valamanesh ◽  
C. Klein ◽  
D. Hicks ◽  
M. Abitbol ◽  
...  
Keyword(s):  
Retinal Dystrophy ◽  
Aquaporin 4 ◽  
Inherited Retinal Dystrophy

Na-K-activated adenosinetriphosphatase in retinae of rats with and without inherited retinal dystrophy

1970 ◽  
Vol 10 (5) ◽  
pp. 435-438 ◽  
Author(s):  
F.J.M. Daemen ◽  
J.J.H.H.M. de Pont ◽  
F. Lion ◽  
S.L. Bonting
Keyword(s):  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophy

scholarly journals Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy

Cells ◽  
2020 ◽  
Vol 9 (3) ◽  
pp. 630 ◽  
Author(s):  
T. J. Hollingsworth ◽  
Alecia K. Gross
Keyword(s):  
Disease Progression ◽  
Age Of Onset ◽  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Major Player ◽  
Inherited Retinal Dystrophy ◽  
Rate Of Progression ◽  
Immunohistochemical Methods ◽  
Onset Rate

Inherited retinal dystrophies (RDs) are heterogenous in many aspects including genes involved, age of onset, rate of progression, and treatments. While RDs are caused by a plethora of different mutations, all result in the same outcome of blindness. While treatments, both gene therapy-based and drug-based, have been developed to slow or halt disease progression and prevent further blindness, only a small handful of the forms of RDs have treatments available, which are primarily for recessively inherited forms. Using immunohistochemical methods coupled with electroretinography, optical coherence tomography, and fluorescein angiography, we show that in rhodopsin mutant mice, the involvement of both the innate and the autoimmune systems could be a strong contributing factor in disease progression and pathogenesis. Herein, we show that monocytic phagocytosis and inflammatory cytokine release along with protein citrullination, a major player in forms of autoimmunity, work to enhance the progression of RD associated with a rhodopsin mutation.

Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy

2019 ◽  
Vol 40 (2) ◽  
pp. 118-123 ◽  
Author(s):  
Li-Yun Guo ◽  
Sui-Lian Zheng ◽  
Jun Li ◽  
Qin Zhu ◽  
Wen-Hua Duan ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophy

scholarly journals Understanding the impact of genetic testing for inherited retinal dystrophy

2013 ◽  
Vol 21 (11) ◽  
pp. 1209-1213 ◽  
Author(s):  
Ryan Combs ◽  
Marion McAllister ◽  
Katherine Payne ◽  
Jo Lowndes ◽  
Sophie Devery ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophy ◽  
The Impact

scholarly journals The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

2019 ◽  
Vol 199 ◽  
pp. 58-70 ◽  
Author(s):  
Daniel C. Chung ◽  
Mette Bertelsen ◽  
Birgit Lorenz ◽  
Mark E. Pennesi ◽  
Bart P. Leroy ◽  
...  
Keyword(s):  
Natural History ◽  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophy ◽  
History Of ◽  
Biallelic Mutations

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 Antioxidant and Biological Properties of Mesenchymal Cells Used for Therapy in Retinitis Pigmentosa

Antioxidants ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 983
Author(s):  
Paolo Giuseppe Limoli ◽  
Enzo Maria Vingolo ◽  
Celeste Limoli ◽  
Marcella Nebbioso
Keyword(s):  
Retinitis Pigmentosa ◽  
Tissue Repair ◽  
Therapeutic Option ◽  
Retinal Dystrophy ◽  
Retinal Disease ◽  
Biological Properties ◽  
Mesenchymal Cells ◽  
Cell Therapies ◽  
Tissue Repair And Regeneration ◽  
Inherited Retinal Dystrophy

Both tissue repair and regeneration are a priority in regenerative medicine. Retinitis pigmentosa (RP), a complex retinal disease characterized by the progressive loss of impaired photoreceptors, is currently lacking effective therapies: this represents one of the greatest challenges in the field of ophthalmological research. Although this inherited retinal dystrophy is still an incurable genetic disease, the oxidative damage is an important pathogenetic element that may represent a viable target of therapy. In this review, we summarize the current neuroscientific evidence regarding the effectiveness of cell therapies in RP, especially those based on mesenchymal cells, and we focus on their therapeutic action: limitation of both oxidative stress and apoptotic processes triggered by the disease and promotion of cell survival. Cell therapy could therefore represent a feasible therapeutic option in RP.

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