[HTML][HTML] Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives

AV Garafalo, AV Cideciyan, E Héon, R Sheplock… - Progress in retinal and …, 2020 - Elsevier
Due to improved phenoty** and genetic characterization, the field of 'incurable'and
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …

[HTML][HTML] Gene therapy in retinal dystrophies

L Ziccardi, V Cordeddu, L Gaddini, A Matteucci… - International journal of …, 2019 - mdpi.com
Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous
degenerative disorders. To date, mutations have been associated with IRDs in over 270 …

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

NG Ghazi, EB Abboud, SR Nowilaty, H Alkuraya… - Human genetics, 2016 - Springer
MERTK is an essential component of the signaling network that controls phagocytosis in
retinal pigment epithelium (RPE), the loss of which results in photoreceptor degeneration …

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials

MD Varela, TAC de Guimaraes, M Georgiou… - British Journal of …, 2022 - bjo.bmj.com
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy.
Given its monogenic nature and the immunological and anatomical privileges of the eye …

[HTML][HTML] Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress

Y Liu, X Zong, W Cao, W Zhang, N Zhang, N Yang - Biomolecules, 2024 - mdpi.com
Retinitis pigmentosa (RP) poses a significant threat to eye health worldwide, with
prevalence rates of 1 in 5000 worldwide. This genetically diverse retinopathy is …

MERTK mutation update in inherited retinal diseases

I Audo, S Mohand‐Said… - Human …, 2018 - Wiley Online Library
MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane
of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment …

Suppression of choroidal neovascularization by AAV-based dual-acting antiangiogenic gene therapy

AL Askou, S Alsing, JNE Benckendorff… - … Therapy Nucleic Acids, 2019 - cell.com
Vascular endothelial growth factor A (VEGFA) is involved in the pathogenesis of
vasoproliferative retinal diseases, such as exudative age-related macular degeneration …

Toward an elucidation of the molecular genetics of inherited retinal degenerations

GJ Farrar, M Carrigan, A Dockery… - Human molecular …, 2017 - academic.oup.com
While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the
major cause of registered visual handicap in the developed world. Given their hereditary …

Long-term characterization of retinal degeneration in Royal College of Surgeons rats using spectral-domain optical coherence tomography

RC Ryals, MD Andrews, S Datta… - … & visual science, 2017 - iovs.arvojournals.org
Purpose: Prospective treatments for age-related macular degeneration and inherited retinal
degenerations are commonly evaluated in the Royal College of Surgeons (RCS) rat before …

Hereditary retinal dystrophy

TC Hohman - Pharmacologic therapy of ocular disease, 2017 - Springer
As our understanding of the genetic basis for inherited retinal disease has expanded, gene
therapy has advanced into clinical development. When the gene mutations associated with …