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12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea.
Eye (Lond)
January 2025
Department of Ophthalmology, Chung-Ang University, College of Medicine, Seoul, South Korea.
Purpose: Understanding the incidence of rare diseases is important in establishing a proper public health care system and setting target diseases in medical research. Herein, we report the 12-year cumulative incidence of seven rare ocular diseases of the retina in South Korea.
Methods: We analysed clinical records of 1,126,250 South Korean population during 2006~2019.
Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene.
Stem Cell Res
December 2024
Department of Integrative Pathophysiology and Therapies, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide, Avda. Américo Vespucio 24, 41092 Seville, Spain.
Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency.
View Article and Find Full Text PDFA Penetrable AAV2 Capsid Variant for Efficient Intravitreal Gene Delivery to the Retina.
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: This study aimed to identify a novel recombinant adeno-associated virus (rAAV) capsid variant that can widely transfect the deep retina through intravitreal injection and to assess their effectiveness and safety in gene delivery.
Methods: By adopting the sequences of various cell-penetrating peptides and inserting them into the capsid modification region of AAV2, we generated several novel variants. The green fluorescent protein (GFP)-carrying variants were screened following intravitreal injection.
[Research progress in optogenetic therapy for retinitis pigmentosa].
Zhonghua Yan Ke Za Zhi
January 2025
Shenzhen Eye Hospital, Jinan University, Shenzhen Institute of Eye Disease Control, Shenzhen518040, China.
Retinitis pigmentosa (RP) is a group of inherited retinal diseases characterized by progressive loss of photoreceptor cells and retinal pigment epithelium function. Its treatment has long been a focus and challenge in ophthalmic research. Despite advances in therapies such as stem cell transplantation, gene therapy, and retinal prosthetic implants, many difficulties remain.
View Article and Find Full Text PDFGeneration of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters.
Stem Cell Res
December 2024
Ophthalmology Research Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address:
Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in the EYS gene, it is believed to be critical for the structural and functional integrity of the retina. Using a non-integrative RNA reprogramming method, we have generated human induced pluripotent stem cell (hiPSC) lines from RP25 patient and from carriers but asymptomatic daughters.
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