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Identification of drugs that can safely and effectively maintain visual function in models of inherited retinal degeneration
Inherited Retinal Degenerations (IRD) are a diverse group of conditions resulting in blindness. This is often traumatic to the affected patient and families, and can cause significant socio-economic impact. Gene or stem-cell therapy show promise as treatments for IRD. However, these approaches are hampered by high costs and treatment...
Retinitis Pigmentosa (RP) is the most common inherited disorder of the retina affecting approximately one in 4000 people. The symptoms of RP are night blindness, tunnel vision and reduction of central vision. Although the symptoms of RP are broadly similar in most people, the genetic causes are complex with over 50 genes being...
Cystinosis is a rare genetic disease that causes the amino acid cystine to accumulate in the body due to mutations in the CTNS gene. In its severest form, cystinosis causes kidney failure before the age of 10. Treatment is limited to cysteamine, a cystine-depleting drug, but this only slows the progression of the disease. The toxic...
Cystinosis is a metabolic disease characterized by accumulation of cysteine crystals in various tissues including cornea. Cystinosis patients begin showing ocular symptoms at the age of 16 months and without appropriate treatment, the entire peripheral stroma and endothelium can be packed with crystals. Eventually complications such as...