Login / Signup

CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.

Mays TalibCaroline Van CauwenberghJulie De ZaeytijdDavid Van WynsbergheElfride De BaereCamiel J F BoonBart Peter Leroy
Published in: The British journal of ophthalmology (2021)
Bi-allelic CRB1 mutations result in a range of progressive retinal disorders, most of which are generalised, with characteristically early macular involvement. Visual function and retinal structure analysis indicates a window for potential intervention with gene therapy before the fourth decade of life in RP and the first decade in LCA.
Keyphrases
  • optical coherence tomography
  • diabetic retinopathy
  • gene therapy
  • optic nerve
  • randomized controlled trial
  • multiple sclerosis
  • genome wide
  • copy number