Drug and gene therapy of hereditary retinal disease in dog and cat models

2013 ◽  
Vol 10 (4) ◽  
pp. e215-e223 ◽  
Author(s):  
Simon M. Petersen-Jones
Keyword(s):  
Gene Therapy ◽  
Retinal Disease ◽  
Hereditary Retinal Disease

scholarly journals Methodological Challenges in the Economic Evaluation of a Gene Therapy for RPE65-Mediated Inherited Retinal Disease: The Value of Vision

2021 ◽  
Vol 39 (4) ◽  
pp. 383-397
Author(s):  
Simone A. Huygens ◽  
Matthijs M. Versteegh ◽  
Stefan Vegter ◽  
L. Jan Schouten ◽  
Tim A. Kanters
Keyword(s):  
Gene Therapy ◽  
Economic Evaluation ◽  
Retinal Disease ◽  
Inherited Retinal Disease ◽  
Methodological Challenges

Genes and Gene Therapy in Inherited Retinal Disease

2021 ◽  
Vol 61 (4) ◽  
pp. 3-45
Author(s):  
Aumer Shughoury ◽  
Thomas A. Ciulla ◽  
Benjamin Bakall ◽  
Mark E. Pennesi ◽  
Szilárd Kiss ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinal Disease ◽  
Inherited Retinal Disease

Hereditary Retinal Disease-Related Retinal Detachment; Risk Factors, Pathogenesis, Clinic, and Management

2020 ◽  
pp. 193-200
Keyword(s):  
Risk Factors ◽  
Retinal Detachment ◽  
Cardiovascular System ◽  
Proliferative Vitreoretinopathy ◽  
Delayed Diagnosis ◽  
Retinal Disease ◽  
Skeletal System ◽  
Younger Age ◽  
Hereditary Retinal Disease

Hereditary retinal disease (HRD) is a group of pathologies characterized by histologically abnormally developing vitreous gel associated with peripheral retinal degenerative or proliferative changes. In HRD alterations in the structure of the vitreous with abnormal vitreoretinal adhesions can predispose to developing Retinal Detachment (RD). Many HRD is seen with a part of syndromes most of which have systemic abnormalities affecting the joints, skeletal system, and cardiovascular system.  Due to delayed diagnosis in younger age patients,  without prominent symptoms, most patients with HR presented with proliferative vitreoretinopathy PVR and macula-involving RD.

Gene Therapy for Retinal Disease

Retina ◽  
2013 ◽  
pp. 652-668 ◽  
Author(s):  
Jean Bennett ◽  
Albert M. Maguire
Keyword(s):  
Gene Therapy ◽  
Retinal Disease

Gene therapy for RPE65-related retinal disease

2018 ◽  
Vol 39 (6) ◽  
pp. 671-677 ◽  
Author(s):  
Virginia Miraldi Utz ◽  
Razek Georges Coussa ◽  
Fares Antaki ◽  
Elias I. Traboulsi
Keyword(s):  
Gene Therapy ◽  
Retinal Disease

Ribozyme Gene Therapy for Autosomal Dominant Retinal Disease

2000 ◽  
Vol 38 (2) ◽  
Author(s):  
William W. Hauswirth ◽  
Matthew M. LaVail ◽  
John G. Flannery ◽  
Alfred S. Lewin
Keyword(s):  
Gene Therapy ◽  
Autosomal Dominant ◽  
Retinal Disease

scholarly journals A demonstration of cone function plasticity after gene therapy in achromatopsia

2020 ◽  
Author(s):  
Mahtab Farahbakhsh ◽  
Elaine J. Anderson ◽  
Andy Rider ◽  
John A. Greenwood ◽  
Nashila Hirji ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Visual Cortex ◽  
Neural Plasticity ◽  
Treatment Strategies ◽  
Retinal Disease ◽  
Preliminary Evidence ◽  
Gene Therapies ◽  
Cone Function ◽  
Child Friendly

AbstractAchromatopsia (ACHM) is an inherited retinal disease characterised by complete loss of cone photoreceptor function from birth. In recent years, gene therapies have successfully been used to induce signal processing in dormant cones in animal models of ACHM, with greater functional benefits for younger animals. With several completed or on-going clinical trials of gene therapy for ACHM, preliminary evidence suggests that effects on visual function in adults with ACHM may be subtle. Given the known constraints of age on neural plasticity, it is possible that gene therapy earlier in life will have a greater impact. Sensitive, child-friendly tests of cone function are therefore needed to facilitate the optimisation of these treatment strategies. Here, we present a new method that leverages a multimodal approach, linking psychophysical estimates of cone function to cone-mediated signals in visual cortex, measured using fMRI. In a case study of two children with ACHM undergoing gene therapy, we find individual differences in recovery of cone function over time, with one child demonstrating strong concurrent evidence of improved cone function, and retinotopically organised responses in visual cortex to cone-selective stimuli. Integrated fMRI and psychophysical measures may provide insight into the utility of new sight-rescuing therapies at different stages of human development.

Pharmacological studies of the mouse cone electroretinogram

2005 ◽  
Vol 22 (5) ◽  
pp. 631-636 ◽  
Author(s):  
SUMIT SHARMA ◽  
SHERRY L. BALL ◽  
NEAL S. PEACHEY
Keyword(s):  
Cell Activity ◽  
Retinal Disease ◽  
Experimental Treatment ◽  
Receptor Activation ◽  
Bipolar Cells ◽  
Small Contribution ◽  
Hereditary Retinal Disease ◽  
Cone Pathway ◽  
Pharmacological Studies ◽  
Species Activity

Electroretinography provides a useful noninvasive approach to evaluate cone pathway activity. Despite wide application of the cone ERG to characterize retinal function in transgenic mice and mouse models of human hereditary retinal disease, the cellular origins of the mouse cone ERG have not been well defined. Here, we address this issue using a pharmacological approach that has been previously applied to other species. Agents that block receptor activation at well-defined retinal loci were dissolved in saline and injected into the vitreous of anesthetized adult BALBc/ByJ mice; cone ERGs were recorded 1–2 h later. Analysis of the resulting waveforms indicated that the mouse cone ERG includes a cornea-negative component that is derived from the activity of cone photoreceptors and retinal glial (Müller) cells. Similar to other species, activity of cone depolarizing bipolar cells contributes a large amplitude cornea-positive potential to the mouse cone ERG. In contrast to primate but similar to rat, the mouse cone ERG includes only a small contribution from hyperpolarizing bipolar cell activity. The inner retina appears to contribute to both thea- andb-waves of the mouse cone ERG. These results provide a foundation for interpreting changes in the waveform of the mouse cone ERG that may be observed following genetic alteration or other experimental treatment.

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