Bardet-Biedl syndrome (BBS) is a group of rare autosomal recessive ciliopathies characterized by dysfunction of primary cilia, which affects multiple organ systems and leads to early-onset obesity, progressive retinal degeneration resulting in vision loss or blindness, and renal abnormalities that may progress to renal failure. Mutations in the BBS10 gene are the second most prevalent cause of BBS, accounting for over 20% of cases.
Age-related macular degeneration (AMD) is the primary cause of blindness in people aged 65 and older in developed nations. Recent estimates suggest that, globally, the number of individuals affected by AMD could rise to approximately 288 million by 2040.
Researchers from Tongji University School of Medicine and collaborating institutions have discovered that NP65 plays a crucial role in maintaining normal visual function in mice. The study, published in Frontiers in Cellular Neuroscience, found that mice lacking NP65 exhibit impaired visual responses.
Among the most significant genetic risk factors for age-related macular degeneration is the Y402H variant of complement factor H, which, along with its splice isoform FHL-1, impairs binding to the retinal surface.
Individuals with autoimmune diseases affecting the thyroid can suffer eye complications in the form of Graves’ orbitopathy, in which inflammation in and around the orbit leads to eyelid retraction, eye bulging and other symptoms.
The progression of neurodegeneration during experimental glaucoma is tied to the early degradation of anterograde transport along retinal ganglion cells to central brain targets, which is followed by frank optic nerve degeneration.
ABI-201 is an engineered AAV.N54 vector that expresses a soluble CD59 variant and a complement 3 (C3) inhibitor fusion protein. ABI-201 was developed by Avirmax Biopharma Inc. to confer photoreceptor protection against retinal damage. The effects of ABI-201 were tested in a sodium iodate-induced retinal damage model in nonhuman primates, a widely used model for testing therapies for age-related macular degeneration (AMD).
Recent evidence has suggested that the use of norrin mimetics targeting both frizzled-4 (FZD4) and low-density lipoprotein receptor-related protein 5 (LRP5) may be highly effective at modulating retinal vascular leakage. When combined with an anti-VEGF therapy, it was hypothesized to have an additive benefit potential for treating retinal vascular disorders.
Glaucoma is a leading cause of blindness and is characterized by the death of retinal ganglion cells (RGCs). Genetic screening data have identified dual leucine zipper kinase (DLK) and leucine zipper kinase (LZK) as important mediators of RGC death.
Innovent Biologics Inc.’s efdamrofusp alfa (IBI-302) met the primary endpoint in phase II, showing a gain of 10 or more letters in visual acuity from baseline at one year in Chinese patients with neovascular age-related macular degeneration.
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