[HTML][HTML] Cataract surgery outcomes in retinitis pigmentosa A comparative clinical database study

M Georgiou, AF Shakarchi, AM Elhusseiny… - American Journal of …, 2024 - Elsevier
Purpose To report visual acuity (VA) outcomes, intraoperative and postoperative
complications of isolated cataract surgery in eyes with retinitis pigmentosa (RP), compared …

[HTML][HTML] Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders

CT Rutan Woods, MS Makia, TR Lewis… - Nature …, 2024 - nature.com
Given the absence of approved treatments for pathogenic variants in Peripherin-2 (PRPH2),
it is imperative to identify a universally effective therapeutic target for PRPH2 pathogenic …

[HTML][HTML] Late-onset retinal degeneration: clinical perspectives

L Lando, S Borooah - Clinical Ophthalmology (Auckland, NZ), 2022 - ncbi.nlm.nih.gov
Late-onset retinal degeneration (L-ORD) is a type of retinal dystrophy marked by nyctalopia
and subretinal pigment epithelium deposits, which eventually promote retinal atrophy with …

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

Q Nguyen, W Woof, N Kabiri, S Sen, MD Varela… - BMJ open, 2023 - bmjopen.bmj.com
Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and
blindness in the working age population. Mutations in over 300 genes have been found to …

[HTML][HTML] The next generation of molecular and cellular therapeutics for inherited retinal disease

LA Martinez Velazquez, BG Ballios - International Journal of Molecular …, 2021 - mdpi.com
Inherited retinal degenerations (IRDs) are a diverse group of conditions that are often
characterized by the loss of photoreceptors and blindness. Recent innovations in molecular …

[HTML][HTML] Gene Therapy for Inherited Retinal Diseases: From Laboratory Bench to Patient Bedside and Beyond

AS Brar, DC Parameswarappa, B Takkar… - Ophthalmology and …, 2024 - Springer
This comprehensive review provides a thorough examination of inherited retinal diseases
(IRDs), encompassing their classification, genetic underpinnings, and the promising …

[HTML][HTML] Short-term outcomes of the first in vivo gene therapy for RPE65-mediated retinitis pigmentosa

JJ Kwak, HR Kim, SH Byeon - Yonsei Medical Journal, 2022 - ncbi.nlm.nih.gov
Here, we report early treatment outcomes of gene therapy for early onset retinitis
pigmentosa (RP)(Leber congenital amaurosis) associated with biallelic RPE65 mutation in a …

In Vivo Potency Testing of Subretinal rAAV5.hCNGB1 Gene Therapy in the Cngb1 Knockout Mouse Model of Retinitis Pigmentosa

JE Wagner, L Zobel, MJ Gerhardt… - Human Gene …, 2021 - liebertpub.com
Retinitis pigmentosa type 45 (RP45) is an autosomal-recessively inherited blinding disease
caused by mutations in the cyclic nucleotide-gated channel subunit beta 1 (CNGB1) gene. In …

[HTML][HTML] Generation of 3D retinal tissue from human pluripotent stem cells using a directed small molecule-based serum-free microwell platform

H Rashidi, YC Leong, K Venner, H Pramod, QZ Fei… - Scientific reports, 2022 - nature.com
Retinal degenerative diseases are a leading cause of blindness worldwide with debilitating
life-long consequences for the affected individuals. Cell therapy is considered a potential …

[HTML][HTML] Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy

R Battu, D Ratra, L Gopal - Indian Journal of Ophthalmology, 2022 - journals.lww.com
Inherited retinal diseases (IRD) are genotypically and phenotypically varied disorders that
lead to progressive degeneration of the outer retina and the retinal pigment epithelium …