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Knobloch syndrome: a rare cause of paediatric retinal detachment

Published:November 13, 2020DOI:https://doi.org/10.1016/j.jcjo.2020.10.013
      Knobloch syndrome is a very rare disease characterized by the following triad: occipital defect, high myopia, and retinal detachment. It is caused by COL18A mutation, inherited in an autosomal recessive pattern.
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