RSS 1.0Genetics (Scholarly Publications)
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RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
(2023)Age-related macular degeneration (AMD) is the most common cause of blindness in the aged population. However, to date there is no effective treatment for the dry form of the disease, representing 85–90% of cases. AMD is ... -
Molecular inversion probe-based sequencing of ush2a exons and splice sites as a cost-effective screening tool in ush2 and arrp cases
(2021)A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. ... -
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
(2023)AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical ... -
MFRP -Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report
(2022)The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes ... -
siRNA targeting Schlemm's canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model
(2021)Systemic or localized application of glucocorticoids (GCs) can lead to iatrogenic ocular hypertension, which is a leading cause of secondary open-angle glaucoma and visual impair ment. Previous work has shown that ...
