scholarly journals Gene Therapy of Inherited Retinal Degenerations: Prospects and Challenges

2015 ◽  
Vol 26 (4) ◽  
pp. 193-200 ◽  
Author(s):  
Ivana Trapani ◽  
Sandro Banfi ◽  
Francesca Simonelli ◽  
Enrico M. Surace ◽  
Alberto Auricchio
Keyword(s):  
Gene Therapy ◽  
Retinal Degenerations

scholarly journals Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases

2016 ◽  
Vol 57 (7) ◽  
pp. 3211 ◽  
Author(s):  
Artur V. Cideciyan ◽  
Alejandro J. Roman ◽  
Samuel G. Jacobson ◽  
Boyuan Yan ◽  
Michele Pascolini ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Outcome Measure ◽  
High Luminance ◽  
Retinal Degenerations

Gene therapy for inherited retinal degenerations

2014 ◽  
Vol 337 (3) ◽  
pp. 185-192 ◽  
Author(s):  
Deniz Dalkara ◽  
José-Alain Sahel
Keyword(s):  
Gene Therapy ◽  
Retinal Degenerations

scholarly journals Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy

Genes ◽  
2018 ◽  
Vol 9 (12) ◽  
pp. 643 ◽  
Author(s):  
Anika Nanda ◽  
Anna P. Salvetti ◽  
Penny Clouston ◽  
Susan M. Downes ◽  
Robert E. MacLaren
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Phenotypic Variability ◽  
Genetic Mutation ◽  
X Inactivation ◽  
Autofluorescence Imaging ◽  
Genetic Sequencing ◽  
Pigmentary Retinopathy ◽  
Retinal Degenerations ◽  
Female Carriers

Inherited retinal degenerations are the leading cause of blindness in the working population. X-linked retinitis pigmentosa (XLRP), caused by mutations in the Retinitis pigmentosa GTPase regulator (RPGR) gene is one of the more severe forms, and female carriers of RPGR mutations have a variable presentation. A retrospective review of twenty-three female RPGR carriers aged between 8 and 76 years old was carried out using fundoscopy, autofluorescence imaging (AF), blue reflectance (BR) imaging and optical coherence tomography (OCT). Confirmation of the genetic mutation was obtained from male relatives or Sanger genetic sequencing. Fundus examination and AF demonstrate phenotypic variability in RPGR carriers. The genetic mutation appears indeterminate of the degree of change. We found four distinct classifications based on AF images to describe RPGR carriers; normal (N) representing normal or near-normal AF appearance (n = 1, 4%); radial (R) pattern reflex without pigmentary retinopathy (n = 14, 61%); focal (F) pigmentary retinopathy (n = 5, 22%) and; male (M) phenotype (n = 3, 13%). The phenotypes were precisely correlated in both eyes (rs = 1.0, p < 0.0001). Skewed X-inactivation can result in severely affected carrier females—in some cases indistinguishable from the male pattern and these patients should be considered for RPGR gene therapy. In the cases of the male (M) phenotype where the X-inactivation was skewed, the pattern was similar in both eyes, suggesting that the mechanism is not truly random but may have an underlying genetic basis.

scholarly journals Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations

2020 ◽  
Vol 9 (3) ◽  
pp. 17 ◽  
Author(s):  
Ian M. MacDonald ◽  
Christopher Moen ◽  
Jacque L. Duncan ◽  
Stephen H. Tsang ◽  
Jasmina Cehajic-Kapetanovic ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinal Degenerations

scholarly journals Mechanisms Underlying the Visual Benefit of Cell Transplantation for the Treatment of Retinal Degenerations

2019 ◽  
Vol 20 (3) ◽  
pp. 557 ◽  
Author(s):  
Thierry Léveillard ◽  
Laurence Klipfel
Keyword(s):  
Gene Therapy ◽  
Animal Models ◽  
Epithelial Cells ◽  
Therapeutic Benefit ◽  
Age Related Macular Degeneration ◽  
Host Cells ◽  
Retinal Degenerations ◽  
Functional Benefit ◽  
Age Related ◽  
Retinal Pigmented Epithelial Cells

The transplantation of retinal cells has been studied in animals to establish proof of its potential benefit for the treatment of blinding diseases. Photoreceptor precursors have been grafted in animal models of Mendelian-inherited retinal degenerations, and retinal pigmented epithelial cells have been used to restore visual function in animal models of age-related macular degeneration (AMD) and recently in patients. Cell therapy over corrective gene therapy in inherited retinal degeneration can overcome the genetic heterogeneity by providing one treatment for all genetic forms of the diseases. In AMD, the existence of multiple risk alleles precludes a priori the use of corrective gene therapy. Mechanistically, the experiments of photoreceptor precursor transplantation reveal the importance of cytoplasmic material exchange between the grafted cells and the host cells for functional rescue, an unsuspected mechanism and novel concept. For transplantation of retinal pigmented epithelial cells, the mechanisms behind the therapeutic benefit are only partially understood, and clinical trials are ongoing. The fascinating studies that describe the development of methodologies to produce cells to be grafted and demonstrate the functional benefit for vision are reviewed.

scholarly journals Prospectives for Gene Therapy of Retinal Degenerations

2012 ◽  
Vol 13 (5) ◽  
pp. 350-362 ◽  
Author(s):  
Gabriele Thumann
Keyword(s):  
Gene Therapy ◽  
Retinal Degenerations

scholarly journals Gene Therapy for MERTK-Associated Retinal Degenerations

2015 ◽  
pp. 487-493 ◽  
Author(s):  
Matthew M. LaVail ◽  
Douglas Yasumura ◽  
Michael T. Matthes ◽  
Haidong Yang ◽  
William W. Hauswirth ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinal Degenerations

Diagnostics of inherited retinal degenerations by gene therapy

2021 ◽  
Vol 137 (4) ◽  
pp. 145
Author(s):  
M.F. Shurygina ◽  
A.M. Khoteeva
Keyword(s):  
Gene Therapy ◽  
Retinal Degenerations
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