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2009-32: Phenotyping and genotyping of retinal dystrophies in The Netherlands

Medical retina
Molecular biology
Investigator Initiated Research
Inclusion open since 18-8-2011

Retinal dystrophies (RD) represent a group of inherited ophthalmic diseases, which are characterized by dysfunction of, or progressive loss of photoreceptor cells, often accompanied by fundus abnormalities. Approximately 115 genes are known to be mutated in these diseases. Together, these mutations cause ~50% of the inherited retinal dystrophies. Knowledge about the genetic causes has improved genetic counselling of the individual patient and enlarged our knowledge about retinal function and dysfunction in retinal dystrophies. It has also led to the first gene therapy trials in patients with RPE65 mutations recently. The aim of this national diagnostics cohort study is to collect and clinically characterize a large cohort of patients with hereditary retinal dystrophies in the Netherlands. The final goal is to provide a more reliable prognosis to patients, to provide better genetic counselling, to discover new genes associated with retinal dystrophies, and to collect larger groups of patients carrying a genetic defect in one of the retinal dystrophy genes. The latter will be essential for the implementation of therapeutic strategies in the near future.

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