For many decades, we have relied on immortalised retinal cell lines, histology of enucleated human eyes, animal models, clinical observation, genetic studies and human clinical trials to learn more about the pathogenesis of retinal diseases and explore treatment options. The recent availability of patient-specific induced pluripotent stem cells (iPSC) for deriving retinal lineages has added a powerful alternative tool for discovering new disease-causing mutations, studying genotype-phenotype relationships, performing therapeutics-toxicity screening and developing personalised cell therapy. This review article provides a clinical perspective on the current and potential benefits of iPSC for managing the most common blinding diseases of the eye: inherited retinal diseases and age-related macular degeneration.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470196 | PMC |
| http://dx.doi.org/10.3390/jcm3041511 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Combined Phacoemulsification, Goniosynechialysis and Ab Interno Trabeculectomy in Primary Angle-closure Glaucoma: Long-term Results.
Int J Med Sci
January 2025
Department of Ophthalmology, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing, China, 100044.
This research was designed to evaluate the efficacy and safety of ab-interno trabeculectomy (Trabectome and Kahook Dual Blade) combined with phacoemulsification, intraocular lens implantation, and goniosynechialysis in eyes with primary angle-closure glaucoma. A total of 47 patients were included in the study and all the patients received the combined surgery. Intraocular pressure, anti-glaucoma medications, best-corrected visual acuity, and the number of peripheral anterior synechiae quadrants were recorded at baseline and at various time points after surgery.
View Article and Find Full Text PDFRegulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFModifiers and their impact on inherited retinal diseases: a review.
Ophthalmic Genet
January 2025
Department of Small Animal Clinical Sciences, Michigan State University, East Lansing, Michigan, USA.
Background: The phenotypic variability of inherited conditions can be due to several factors including environmental, epigenetic, and genetic. One of those genetic factors is the presence of modifying loci which alter the phenotypic expression of a primary disease or phenotype-causing variant. Modifiers are known to affect penetrance, dominance, expressivity, and pleiotropy of disease.
View Article and Find Full Text PDFHirudo extract ameliorates proliferative vitreoretinopathy by promoting autophagy and attenuating the THBS2/PI3K/Akt pathway.
Sci Rep
January 2025
Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, People's Republic of China.
Epithelial‒mesenchymal transition (EMT) in retinal pigment epithelial (RPE) cells is believed to play a key role in the pathogenesis of proliferative vitreoretinopathy (PVR). The ability of Hirudo to promote blood flow and dispel blood stasis may be related to its anti-EMT effects. Through the use of a network pharmacology method, the mechanism by which Hirudo treats PVR was investigated in this study, and the findings were confirmed through in vitro cellular tests.
View Article and Find Full Text PDFStargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to loss-of-function mutations in the ABCA4 gene. We have designed a dual adeno-associated viral vector encoding a split-intein adenine base editor to correct the most common mutation in ABCA4 (c.5882G>A, p.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!