The diagnostic yield of next generation sequencing in inherited retinal diseases: a systematic review and meta-analysis
AC Britten-Jones, SA Gocuk, KL Goh, A Huq… - American Journal of …, 2023 - Elsevier
PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …
essential for patient management and identifying suitable candidates for gene therapies …
Female carriers of X-linked inherited retinal diseases–Genetics, diagnosis, and potential therapies
Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause
progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked …
progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked …
[PDF][PDF] Gene Editing for CEP290-Associated Retinal Degeneration
EA Pierce, TS Aleman, KT Jayasundera… - N. Engl. J …, 2024 - nueyecal.com
BACKGROUND CEP290-associated inherited retinal degeneration causes severe early-
onset vision loss due to pathogenic variants in CEP290. EDIT-101 is a clustered regularly …
onset vision loss due to pathogenic variants in CEP290. EDIT-101 is a clustered regularly …
Gene-based therapeutics for inherited retinal diseases
Inherited retinal diseases (IRDs) are a heterogenous group of orphan eye diseases that
typically result from monogenic mutations and are considered attractive targets for gene …
typically result from monogenic mutations and are considered attractive targets for gene …
[HTML][HTML] Preclinical investigations on broccoli-derived sulforaphane for the treatment of ophthalmic disease
Vision loss causes a significant burden on individuals and communities on a financial,
emotional and social level. Common causes include age-related macular degeneration …
emotional and social level. Common causes include age-related macular degeneration …
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 …
Advances in ophthalmic optogenetics: approaches and applications
Recent advances in optogenetics hold promise for vision restoration in degenerative eye
diseases. Optogenetics refers to techniques that use light to control the cellular activity of …
diseases. Optogenetics refers to techniques that use light to control the cellular activity of …
[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 …
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single …
P Kiraly, CL Cottriall, LJ Taylor, JK Jolly… - Biomolecules, 2023 - mdpi.com
Our study evaluated the morphological and functional outcomes, and the side effects, of
voretigene neparvovec (VN) gene therapy for RPE65-mediated inherited retinal dystrophies …
voretigene neparvovec (VN) gene therapy for RPE65-mediated inherited retinal dystrophies …
Stargardt disease and progress in therapeutic strategies
Background Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …