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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Article info
Publication history
Published online: November 13, 2020
Accepted:
October 12,
2020
Received:
August 22,
2020
Identification
Copyright
© 2020 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.
