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Bilateral giant retinal tears in Osteogenesis Imperfecta.

Paolo ScolloMartin Paul SneadAllan James RichardsRebecca PollittCatherine DeVile
Published in: BMC medical genetics (2018)
Genetic analyses are increasingly important in such cases and may guide patient monitoring and potential prophylactic treatment, known to significantly reduce the probability of giant retinal tear detachments in other high-risk collagenopathies such as Stickler Syndrome Type I.
Keyphrases
  • case report
  • optical coherence tomography
  • diabetic retinopathy
  • optic nerve
  • genome wide
  • rare case
  • dna methylation
  • human health
  • replacement therapy