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Achromatopsia: Long term visual performance and clinical characteristics.

Yuval Margherita EshelOra AbaevClaudia Yahalom
Published in: European journal of ophthalmology (2023)
CNGA3 is the main gene associated with achromatopsia in our population (around ∼ 73%), which is in contrast to the distribution worldwide (∼ 25%). Most achromats suffer from photophobia and nystagmus, and the main refractive error is hypermetropia. Achromatopsia's natural course seems to be stationary, and there may even be a slight improvement in visual acuity with time.
Keyphrases
  • magnetic resonance
  • copy number
  • genome wide
  • liquid chromatography
  • gene expression
  • mass spectrometry
  • transcription factor
  • cataract surgery