Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …
M Georgiou, AG Robson, K Fujinami… - Progress in retinal and …, 2024 - Elsevier
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …
population and children. The scope of this review is to familiarise clinicians and scientists …
Gene therapy strategies for glaucoma from IOP reduction to retinal neuroprotection: Progress towards non-viral systems
A Hakim, B Guido, L Narsineni, DW Chen… - Advanced drug delivery …, 2023 - Elsevier
Glaucoma is the result of the gradual death of retinal ganglion cells (RGCs) whose axons
form the optic nerve. Elevated intraocular pressure (IOP) is a major risk factor that …
form the optic nerve. Elevated intraocular pressure (IOP) is a major risk factor that …
Peptide-guided lipid nanoparticles deliver mRNA to the neural retina of rodents and nonhuman primates
Lipid nanoparticle (LNP)–based mRNA delivery holds promise for the treatment of inherited
retinal degenerations. Currently, LNP-mediated mRNA delivery is restricted to the retinal …
retinal degenerations. Currently, LNP-mediated mRNA delivery is restricted to the retinal …
Precision genome editing in the eye
CRISPR-Cas-based genome editing technologies could, in principle, be used to treat a wide
variety of inherited diseases, including genetic disorders of vision. Programmable CRISPR …
variety of inherited diseases, including genetic disorders of vision. Programmable CRISPR …
[HTML][HTML] Genome editing in the treatment of ocular diseases
Genome-editing technologies have ushered in a new era in gene therapy, providing novel
therapeutic strategies for a wide range of diseases, including both genetic and nongenetic …
therapeutic strategies for a wide range of diseases, including both genetic and nongenetic …
[HTML][HTML] Achromatopsia: genetics and gene therapy
S Michalakis, M Gerhardt, G Rudolph… - Molecular diagnosis & …, 2022 - Springer
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …
[HTML][HTML] Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis
X Chen, N Xu, J Li, M Zhao, L Huang - Stem Cell Research & Therapy, 2023 - Springer
Purpose Stem cell therapy is a promising therapeutic approach for inherited retinal diseases
(IRDs). This study aims to quantitatively examine the effectiveness and safety of stem cell …
(IRDs). This study aims to quantitatively examine the effectiveness and safety of stem cell …
RNA-based therapies in inherited retinal diseases
A Girach, I Audo, DG Birch… - Therapeutic …, 2022 - journals.sagepub.com
Inherited retinal diseases (IRDs) are a genetically and phenotypically heterogeneous group
of genetic eye disorders. There are more than 300 disease entities, and together this group …
of genetic eye disorders. There are more than 300 disease entities, and together this group …
[HTML][HTML] The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: a systematic review
AC Britten-Jones, R Jin, SA Gocuk, E Cichello… - Genetics in …, 2022 - Elsevier
Purpose This study aimed to systematically review and summarize gene therapy treatment
for monogenic retinal and optic nerve diseases. Methods This review was prospectively …
for monogenic retinal and optic nerve diseases. Methods This review was prospectively …
[HTML][HTML] CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials
M Talib, MJ van Schooneveld, J Wijnholds… - American Journal of …, 2022 - Elsevier
PURPOSE To investigate the natural disease course of retinal dystrophies associated with
crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future …
crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future …