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- Persistent Fetal Vasculature (PFV)
The inexorable fetal vasculature (PFV) is complex in its presentation, rendering its diagnosis and therapeutics quite difficult. As a research service provider, Protheragen offers customized diagnostics and therapeutics development services.
Persistent Fetal Vasculature (PFV) is a hereditary ocular abnormality whose pathogenesis is associated with the abnormal development of the fetal eye. An embryo is healthy when features like the hyaloid vascular system that supplies the developing lens and retina in the early stages are fully formed. This vascular system, however, is designed to recede, only to leave behind a prominently used pliable structure called the Cloquet canal. In PFV cases, the entirety or parts of the hyaloid vasculature system remain, which leads to overdevelopment of the optic nerve head leading to other ocular parts, like the lens and ciliary process, resulting in abnormally formed posterior structures.
Fig.1 Pathological study of persistent fetal vasculature. (Pauzuolyte V., et al., 2023)There can be a multitude of structural and functional deficiencies in the vision. For instance, persistent fetal vasculature syndrome complications may include ocular and systemic associated congenital anomalies of the lens. Retinal detachment is also a common complication, as the traction exerted by the persistent vessels can pull on the retina. Other conditions like angle-closure glaucoma may occur because of anterior segment dysgenesis which leads to abnormal propulsion of fetal tissue, and obstruction of the aqueous outflow pathways.
Genetic Testing
Testing for PFV usually includes finding the relevant mutations associated with the disorder using genetic examination. PFV is connected to many different genes. Some examples the literature provide, an autosomal recessive inheritance was noted for some cases having mutations at ATOH7 gene at 10q21.3. An Egyptian family with a PFV had a different dominant pattern of inheritance which was noted earlier. Also, in bilateral PFV cases, some mutations were found NDP and COX15 genes located on chromosome 10.
Biomarker Identification
One other part of molecular diagnostics is detecting potential biomarkers. Biomarkers include molecules like proteins and nucleic acids that may take part in the onset and progression of PFV. For example, some studies tried to determine the role of vascular endothelial growth factor (VEGF) and placental growth factor in hyaloid vasculature regression and their abnormal levels as potential biomarkers for PFV.
At Protheragen, we offer a comprehensive range of services for Persistent Fetal Vasculature diagnostics and therapeutics development. Our state-of-the-art facilities and a team of experienced scientists enable us to conduct in-depth research and development in this field.
Protheragen's preclinical research services for PFV are designed to provide a solid foundation for the development of effective therapies. We conduct in vitro studies using cell lines and organoids to understand the molecular mechanisms underlying PFV. For example, we use retinal cell lines to study the effects of genetic mutations on cell behavior and the role of signaling pathways in the development of PFV-related phenotypes.
In vivo preclinical studies are also a key part of our services. We use animal models, such as mice and rabbits, to test the safety and efficacy of potential therapeutics. These animal models are carefully selected based on their ability to mimic the human PFV condition. If you are interested in our services, please feel free to contact us.
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