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2013-29: Phenotyping and genotyping of retinal dystrophies in The Netherlands – Rotterdam Cohort

Children and inhertable diseases
Molecular biology
Investigator Initiated Research
Inclusion open since 1-1-2014

The goal of this study is to collect and clinically characterize the cohort of patients with hereditary retinal dystrophies in the Rotterdam Eye Hospital. The study cohort will be used to identify the genetic causes underlying these diseases, and to establish genotype-phenotype correlations. The goal of studying this cohort is to select eligible patients for therapeutic trials with new treatment modalities. Patients with syndromic or non-syndromic hereditary retinal dystrophy (retinitis pigmentosa, cone-rod dystrophy, Leber congenita amaurosis, etc), will be asked to participate in this study. This study is part of the Dutch RP5000 study.

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