The Amsterdam UMC Ophthalmogenetics research section of professor Arthur A. Bergen, professor of complex genetic eye diseases, is part of the Human Genetics department. The section focuses on development and innovative pre-clinical therapeutic research. The section includes the laboratories for development of ocular therapies.
For the overwhelming majority of genetic eye diseases no effective cure exists. Most disorders are characterized by a progressive deterioration of visual acuity with frequently legal blindness as endpoint. There are multiple forms of therapy: small molecules (supplements, repurposed medicine), preventive solutions such as gene therapy and surgery, and regenerative medicine.
Currently, only one form of the hereditary eye disease, retinitis pigmentosa (RPE65), can be treated preventively with gene therapy (Luxturna). For a small subset (10 %) of age-related macular degeneration (AMD) patients, preventive intra-ocular injections of anti-VEGF medicine are available. For glaucoma, a variety of drugs is available to lower eye pressure and slow down the disease. A number of treatment options for different retinal diseases are in clinical trials (mostly phase I or II). Given the absence of effective cures, there’s an unmet need for new treatments that could improve the vision – and therefore the quality of life – of patients.
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