A 54-year-old woman with retinitis pigmentosa and hearing loss developed white skin patches that were subsequently diagnosed as vitiligo. A review of the literature reveals that, although the association of vitiligo with various tapedoretinal degenerations has been reported on several occasions, the association with typical retinitis pigmentosa is quite rare. This combination of disorders associated with pigment loss is of interest as immunologic disturbances have been implicated on both.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1097/00006982-198200220-00005 | DOI Listing |
Adv Drug Deliv Rev
January 2025
Neurodegenerative Diseases Department, Kadimastem Ltd, Pinchas Sapir 7, Weizmann Science Park, Ness-Ziona, Israel; Department of Molecular Genetics, Weizmann Institute of Science, 76100, Rehovot, Israel.
Self-renewal capacity and potential to differentiate into almost any cell type of the human body makes pluripotent stem cells a valuable starting material for manufacturing of clinical grade cell therapies. Neurodegenerative diseases are characterized by gradual loss of structure or function of neurons, often leading to neuronal death. This results in gradual decline of cognitive, motor, and physiological functions due to the degeneration of the central nervous systems.
View Article and Find Full Text PDFTransl Vis Sci Technol
January 2025
STZ eyetrial at the Centre for Ophthalmology, Tuebingen, Germany.
Purpose: Reports of gene therapy-associated retinal atrophies and inflammation have highlighted the importance of preclinical safety assessments of adeno-associated virus (AAV) vector systems. We evaluated in nonhuman primates (NHPs) the ocular safety and toxicology of a novel AAV gene therapy targeting retinitis pigmentosa caused by mutations in PDE6A, which has since been used in a phase I/II clinical trial (NCT04611503).
Methods: A total of 34 healthy cynomolgus animals (Macaca fascicularis) were treated with subretinal injections of rAAV.
Cell Insight
February 2025
Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China.
Retinal degenerative diseases encompass a diverse range of eye conditions that result in blindness, many due to photoreceptor dysfunction and loss. Regrettably, current clinical treatments are frequently not overly effective. However, photoreceptor transplantation shows promise as a potential therapy for late-stage retinal degenerative diseases.
View Article and Find Full Text PDFJ Neuroinflammation
January 2025
Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, 21231, USA.
Background: The retinal degenerative diseases retinitis pigmentosa (RP) and atrophic age- related macular degeneration (AMD) are characterized by vision loss from photoreceptor (PR) degeneration. Unfortunately, current treatments for these diseases are limited at best. Genetic and other preclinical evidence suggest a relationship between retinal degeneration and inflammation.
View Article and Find Full Text PDFCell Death Discov
January 2025
Department of Ophthalmology and Visual Sciences, Case Western Reserve University, Cleveland, OH, USA.
Rhodopsin is the light-activated G protein-coupled receptor that initiates vision in photoreceptor cells of the retina. Numerous mutations in rhodopsin promote receptor misfolding and aggregation, causing autosomal dominant retinitis pigmentosa, a progressive retinal degenerative disease. The mechanism by which these mutations cause photoreceptor cell death, and the role aggregation plays in this process is still unclear.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!