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 …

RNA-targeting strategies as a platform for ocular gene therapy

S Kumar, LE Fry, JH Wang, KR Martin… - Progress in Retinal and …, 2023 - Elsevier
Genetic medicine is offering hope as new therapies are emerging for many previously
untreatable diseases. The eye is at the forefront of these advances, as exemplified by the …

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): rationale, methodology and initial participant characteristics

AC Britten‐Jones, F O'Hare, TL Edwards… - Clinical & …, 2022 - Wiley Online Library
Background Emerging treatments are being developed for inherited retinal diseases,
requiring a clear understanding of natural progression and a database of potential …

Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia

HG Mack, AC Britten-Jones, MB McGuinness, FK Chen… - Gene Therapy, 2023 - nature.com
Many gene therapies are in development for treating people with inherited retinal diseases
(IRD). We hypothesized that potential recipients of gene therapy would have knowledge …

The concept of gene therapy for glaucoma: the dream that has not come true yet

R Sulak, X Liu, A Smedowski - Neural regeneration research, 2024 - journals.lww.com
Gene therapies, despite of being a relatively new therapeutic approach, have a potential to
become an important alternative to current treatment strategies in glaucoma. Since …

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand

AC Britten‐Jones, HG Mack, AL Vincent… - Clinical …, 2024 - Wiley Online Library
With advances in gene‐based therapies for heritable retinal diseases, primary eye care
clinicians should be informed on ocular genetics topics. This cross‐sectional survey …

Safety and efficacy of adeno-associated viral gene therapy in patients with retinal degeneration: a systematic review and meta-analysis

M Sobh, PS Lagali, M Ghiasi, J Montroy… - … Vision Science & …, 2023 - tvst.arvojournals.org
Purpose: This systematic review evaluates the safety and efficacy of ocular gene therapy
using adeno-associated virus (AAV). Methods: MEDLINE, Embase, Cochrane Central …

[HTML][HTML] Adaptive optics imaging in inherited retinal diseases: A scoping review of the clinical literature

AC Britten-Jones, L Thai, JPM Flanagan… - Survey of …, 2024 - Elsevier
Adaptive optics (AO) imaging enables direct, objective assessments of retinal cells.
Applications of AO show great promise in advancing our understanding of the etiology of …

Charge-converting nanoemulsions as promising retinal drug and gene delivery systems

NM Nguyen Le, S Zsák, B Le-Vinh… - … Applied Materials & …, 2022 - ACS Publications
Aim: This study aimed to develop phosphatase-responsive ζ potential converting
nanocarriers utilizing polyphosphate-coated cell-penetrating peptide (CPP)-decorated …

AMD genomics: non-coding RNAs as biomarkers and therapeutic targets

C Zhang, LA Owen, JH Lillvis, SX Zhang… - Journal of Clinical …, 2022 - mdpi.com
Age-related macular degeneration (AMD) is a progressive neurodegenerative disease that
is the world's leading cause of blindness in the aging population. Although the clinical …