Results 71 to 80 of about 1,367 (120)

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy

Molecular Genetics & Genomic Medicine
Background Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment.
Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee   +7 more
doaj   +1 more source

Artificial intelligence‐quantified schisis volume as a structural endpoint for gene therapy clinical trials in X‐linked retinoschisis

Acta Ophthalmologica, Volume 103, Issue 6, Page 715-724, September 2025.
Abstract Purpose To use artificial intelligence (AI) for quantifying schisis volume (ASV) in X‐linked retinoschisis (XLRS) for use as a structural endpoint in gene therapy clinical trials. Methods We used data from Singapore, the United Kingdom, the Netherlands, and the United States. The AI model was developed on 250 optical coherence tomography (OCT)
Tien‐En Tan, Peilun Dai, Jonathan Hensman, Peter Kiraly, Beau J. Fenner, Yong Liu, Rick S. M. Goh, Ian C. Han, Daniel S. W. Ting, Camiel J. F. Boon, M. Dominik Fischer   +10 more
wiley   +1 more source

Voretigene Neparvovec for Treating Inherited Retinal Dystrophies Caused by RPE65 Gene Mutations: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Appraisal [PDF]

, 2020
The UK National Institute for Health and Care Excellence (NICE) considered evidence for voretigene neparvovec (VN; Luxturna®) for the treatment of RPE65-mediated inherited retinal dystrophies (IRD) within its highly specialised technology programme. This
Melendez-Torres, GJ, Packman, David, Long, Linda, Nikram, Elham, Farmer, Caroline, Bullement, Ash, Hatswell, Anthony J, Robinson, Sophie, Crathorne, Louise   +8 more
core   +1 more source

Retinitis Pigmentosa: Burden of Disease and Current Unmet Needs

Clinical Ophthalmology, 2022
Nancy Cross,1 Cécile van Steen,2 Yasmina Zegaoui,1 Andrew Satherley,1 Luigi Angelillo2 1Market Access, Lightning Health, London, England, UK; 2Market Access HTA & HEOR, EMEA, Santen GmbH, Munich, Bavaria, GermanyCorrespondence: Yasmina Zegaoui, Market ...
Cross N, van Steen C, Zegaoui Y, Satherley A, Angelillo L   +4 more
doaj  

Clinical and genetic characteristics of RPE65-associated inherited retinal degeneration in Koreans

Scientific Reports
RPE65-associated inherited retinal degeneration (IRD) is a rare autosomal recessive disorder for which a gene therapy (voretigene neparvovec) is available in selected patients with sufficient residual retinal structure.
Sungsoon Hwang, Sohee Jeon, Chang Ki Yoon, Cheon Kuk Ryu, Eun Kyoung Lee, Sang Jin Kim   +5 more
doaj   +1 more source

Infantile Nystagmus Syndrome—Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials

Life
Inherited retinal diseases (IRDs) are a clinically and genetically diverse group of progressive degenerative disorders that can result in severe visual impairment or complete blindness.
Xiaoming Gong, Richard W. Hertle
doaj   +1 more source

State-of-the-art gene therapy for inherited retinal disorders

Клиническая офтальмология
O.I. Orenburkina1, A.E. Babushkin2 1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation 2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian ...
O.I. Orenburkina, A.E. Babushkin
doaj  

Novel Therapies for Inherited Retinal Dystrophies

With the approval of the first retinal gene therapy, voretigene neparvovec [...
Christine Nichols Kay
core   +1 more source

Bilateral functional worsening following voretigene neparvovec therapy. [PDF]

Eye (Lond), 2023
Rebelo Neves E, Carvalho AL, Mesquita T, Paiva C, Alfaiate M, Figueira J, Murta J, Marques JP.   +7 more
europepmc   +1 more source

Subretinal deposits in young patients treated with voretigene neparvovec-rzyl for RPE65-mediated retinal dystrophy. [PDF]

Br J Ophthalmol, 2023
Lopez J, Borchert M, Lee TC, Nagiel A.
europepmc   +1 more source