CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa DOI Creative Commons
Yuqin Liang, Xihao Sun, Hang Chen

и другие.

Stem Cell Research, Год журнала: 2024, Номер 81, С. 103581 - 103581

Опубликована: Окт. 14, 2024

Язык: Английский

Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases DOI Creative Commons
Uday Pratap Singh Parmar, Pier Luigi Surico, Rohan Bir Singh

и другие.

Medicina, Год журнала: 2024, Номер 60(4), С. 527 - 527

Опубликована: Март 23, 2024

Artificial intelligence (AI) has emerged as a transformative tool in the field of ophthalmology, revolutionizing disease diagnosis and management. This paper provides comprehensive overview AI applications various retinal diseases, highlighting its potential to enhance screening efficiency, facilitate early diagnosis, improve patient outcomes. Herein, we elucidate fundamental concepts AI, including machine learning (ML) deep (DL), their application underscoring significance AI-driven solutions addressing complexity variability diseases. Furthermore, delve into specific diseases such diabetic retinopathy (DR), age-related macular degeneration (AMD), Macular Neovascularization, prematurity (ROP), vein occlusion (RVO), hypertensive (HR), Retinitis Pigmentosa, Stargardt disease, best vitelliform dystrophy, sickle cell retinopathy. We focus on current landscape technologies, models, performance metrics, clinical implications. aim address challenges pitfalls associated with integration practice, “black box phenomenon”, biases data representation, limitations assessment. In conclusion, this review emphasizes collaborative role alongside healthcare professionals, advocating for synergistic approach delivery. It highlights importance leveraging augment, rather than replace, human expertise, thereby maximizing revolutionize delivery, mitigate disparities, outcomes evolving medicine.

Язык: Английский

Процитировано

20

Pre-Clinical and Clinical Advances in Gene Therapy of X-Linked Retinitis Pigmentosa: Hope on the Horizon DOI Open Access

Nadezhda A. Pechnikova,

M. Poimenidou,

Ioannis V. Iliadis

и другие.

Journal of Clinical Medicine, Год журнала: 2025, Номер 14(3), С. 898 - 898

Опубликована: Янв. 29, 2025

X-linked retinitis pigmentosa (XLRP) is a severe inherited retinal degenerative disease characterized by progressive loss of photoreceptors and pigment epithelium, leading to blindness. Predominantly affecting males due mutations in the RPGR gene, XLRP currently lacks effective treatments beyond supportive care. Gene therapy has emerged as promising approach restore photoreceptor function delivering functional copies gene. Recent clinical trials using AAV vectors, such AAV5-RPGR AGTC-501, have demonstrated encouraging results, including improvements sensitivity visual function. While early successes like LUXTURNA set precedent for gene diseases, adapting these strategies presents unique challenges complexity need efficient targeting. Advances vector design, use optimized serotypes with enhanced tropism specific promoters, significantly improved delivery. Despite setbacks some studies, ongoing research continue refine therapies, offering hope patients affected XLRP. This review explores etiology pathophysiology XLRP, evaluates current treatment challenges, highlights recent advances therapy, discusses future perspectives bringing therapies into practice.

Язык: Английский

Процитировано

0

Indications and Surgical Treatments for Inherited Retinal Dystrophies DOI Creative Commons

Pamela Ríos,

Cristina Irigoyen

IntechOpen eBooks, Год журнала: 2025, Номер unknown

Опубликована: Март 31, 2025

Inherited retinal dystrophies (IRD, see Abbreviations) are a group of genetic disorders characterized by progressive degeneration the retina, leading to vision loss. These conditions often present with complications such as posterior subcapsular cataracts (PSC), which can significantly impair vision. Additionally, vitreoretinal (VR) epiretinal membrane (ERM), vitreomacular traction (VMT), and macular hole (MH) common. Treatment these is surgical. One goals this chapter will be focus on prevalence, surgical indications, pre- postoperative evaluation in patients complications. The growing importance gene therapy recent years also recognized, particularly potential tool for enhancing visual function IRD. Accessing through subretinal space (SRS), area between neurosensory retina pigment epithelium (RPE), allows direct contact drug photoreceptors RPE, optimizing concentration cells. We want offer an insight into current injection.

Язык: Английский

Процитировано

0

Can Stem Cell Therapy Revolutionize Ocular Disease Treatment? A Critical Review of Preclinical and Clinical Advances DOI
Kuo-Su Chen,

Hoi-Chun Chan,

Chi-Ming Chan

и другие.

Stem Cell Reviews and Reports, Год журнала: 2025, Номер unknown

Опубликована: Апрель 23, 2025

Язык: Английский

Процитировано

0

The New Era of Therapeutic Strategies for the Management of Retinitis Pigmentosa: A Narrative Review of the Pathomolecular Mechanism for Gene Therapies DOI Open Access

Praveena P Nair,

Manjiri Keskar,

Pramod T Borghare

и другие.

Cureus, Год журнала: 2024, Номер unknown

Опубликована: Авг. 13, 2024

Retinitis pigmentosa, or RP, is a group of inherited retinal degenerations involving progressive loss photoreceptor cells- rods and cones- ultimately causing severe vision blindness. although very common ailment, continues to be an incurable disease with little done medically. However, the breakthroughs in gene therapy stem cell transplantation recent years, new door has been opened treatment RP. This narrative review summarizes pathomolecular mechanisms focusing on genetic molecular abnormalities that lead process degeneration. In this section, we talk about current theories how RP develops, mutations, oxidative stress, inflammation. We also delve into therapeutic approaches such as therapy, genome surgery, which are designed either replace repair damaged photoreceptors restore enhance life patient. Another topic covered obstacles research frontiers these revolutionary treatments. article intended give complete overview processes promising strategies could change way devastating treated.

Язык: Английский

Процитировано

2

Oxygen, the Paradox of Life and the Eye DOI Creative Commons
Dario Rusciano, Paola Bagnoli

Frontiers in Bioscience-Landmark, Год журнала: 2024, Номер 29(9)

Опубликована: Сен. 13, 2024

Oxidative stress, caused by the formation of free radicals, such as reactive oxygen species (ROS), leads to cell and tissue degradation, contributing various diseases aging. While is essential for aerobic organisms, it inevitably causes oxidative stress. Antioxidants protect against damage from stress arises when an imbalance occurs between radical production antioxidant defenses. However, investigating whether excess antioxidants, almost eliminating could benefit aging disease susceptibility, was observed that a basic level appears necessary maintain correct homeostasis tissues organs life in general. Therefore, this review aimed compile most significant recent papers characterizing describing dual role molecule precursor which can be detrimental life. We conducted targeted searches PubMed Google browsers gather all relevant papers. then focused on eye, organ particularly vulnerable due its high metabolic activity combined with direct exposure light environmental pollutants, produces substantial number radicals (mainly ROS). present curated selection literature main ocular pathologies posterior anterior segments highlighting factor. Additionally, we report how endogenous exogenous antioxidants mitigate development progression these diseases. Finally, consider frequently overlooked aspect: balance oxidants maintaining homeostatic equilibrium organs. It widely recognized overwhelm occurs, leading negative consequences organism's homeostasis. emphasize similarly dangerous situation arise presence overwhelms drastically reducing their amount adversely affecting longevity. Unfortunately, no specific studies have addressed particular eye.

Язык: Английский

Процитировано

2

Retinitis pigmentosa and stem cell therapy DOI Creative Commons

Xin-Ya Qi,

Chen‐Hui Mi,

D. Cao

и другие.

International Journal of Ophthalmology, Год журнала: 2024, Номер 17(7), С. 1363 - 1369

Опубликована: Июнь 25, 2024

Retinitis pigmentosa (RP) is a group of genetic disorders characterized by progressive degeneration photoreceptors and retinal pigment epithelium (RPE) cells. Its main clinical manifestations include night blindness loss peripheral vision, making it prevalent debilitating eye disease that significantly impacts patients' quality life. RP exhibits significant phenotypic heterogeneity. For instance, numerous abnormal genes are implicated in RP, resulting varying presentations, progression rates, pathological characteristics among different patients. Consequently, gene therapy for poses challenges due to these complexities. However, stem cells have garnered considerable attention the field RPE since both can be derived from In recent years, large number animal experiments trials based on cell transplantation attempts, especially cord blood mesenchymal (MSC) bone marrow-derived MSC transplantation, confirmed effectively safely improve outer function RP-affected eye. also has certain limitations, such as fact patients may involve multiple types cytopathia, which brings great therapy, further research needed solve various problems faced this approach clinic. Through comprehensive analysis etiology histopathological changes associated with study substantiates efficacy safety rigorous experimentation trials, while highlighting existing limitations warrant investigation.

Язык: Английский

Процитировано

1

Retigabine increases the conformational stability of the visual photoreceptor rhodopsin DOI Creative Commons
Feifei Wang, Pol Fernandez-Gonzalez, Juan J. Pérez

и другие.

International Journal of Biological Macromolecules, Год журнала: 2024, Номер 279, С. 135343 - 135343

Опубликована: Сен. 4, 2024

Язык: Английский

Процитировано

0

CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa DOI Creative Commons
Yuqin Liang, Xihao Sun, Hang Chen

и другие.

Stem Cell Research, Год журнала: 2024, Номер 81, С. 103581 - 103581

Опубликована: Окт. 14, 2024

Язык: Английский

Процитировано

0