Stargardt disease is a hereditary retinal dystrophy associated with mutations in the gene. Currently, no etiopathogenetic drugs nor treatment methods for Stargardt disease have completely passed clinical trials. The review summarizes experimental and clinical studies of drugs aimed at reducing the accumulation of vitamin A dimers, lipofuscin, complement inhibition and RPE regeneration by stem cell transplantation, as well as gene therapy studies with intravitreal vector injection of the functional gene.
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http://dx.doi.org/10.17116/oftalma2020136042333 | DOI Listing |
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.
Sci Rep
January 2025
Institute of Molecular and Clinical Ophthalmology Basel (IOB), Mittlere Strasse 91, 4031, Basel, Switzerland.
The eye and the heart are two closely interlinked organs, and many diseases affecting the cardiovascular system manifest in the eye. To contribute to the understanding of blood flow propagation towards the retina, we developed a method to acquire electrocardiogram (ECG) coupled time-resolved dynamic optical coherence tomography (OCT) images. This method allows for continuous synchronised monitoring of the cardiac cycle and retinal blood flow dynamics.
View Article and Find Full Text PDFCureus
December 2024
Ophthalmology, Ramsay Health Care, Mount Stuart Hospital, Torquay, GBR.
Macular degeneration (MD) is a pathological condition affecting the macula, an area located near the center of the retina. This disease affects individuals of all ages, both children and adults, causing severe visual impairment. Age-related macular degeneration (AMD) is the leading cause of visual loss in the older population while Stargardt disease (SD) is the most common hereditary maculopathy with an autosomal dominant pattern of inheritance.
View Article and Find Full Text PDFSci Rep
December 2024
INCI-UPR3212-CNRS, 8 Allée du Général Rouvillois, 67000, Strasbourg, France.
Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life and leads to severe visual handicap. Abca4 gene-deletion mouse models of STGD1 accumulate lipofuscin, a hallmark of the disease, but unlike the human disease show no or only moderate structural changes and no functional decline.
View Article and Find Full Text PDFStem Cells Transl Med
December 2024
NEI/OSCTRS/OGVFB, Bethesda, MD, United States.
Retinal pigment epithelium (RPE) atrophy is a significant cause of human blindness worldwide, occurring in polygenic diseases such as age-related macular degeneration (AMD) and monogenic diseases such as Stargardt diseases (STGD1) and late-onset retinal degeneration (L-ORD). The patient-induced pluripotent stem cells (iPSCs)-derived RPE (iRPE) model exhibits many advantages in understanding the cellular basis of pathological mechanisms of RPE atrophy. The iRPE model is based on iPSC-derived functionally mature and polarized RPE cells that reproduce several features of native RPE cells, such as phagocytosis of photoreceptor outer segments (POS) and replenishment of visual pigment.
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