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Visual Acuity in Aniridia and WAGR Syndrome.

Michael A KrauseKelly L TroutJames D LauderdalePeter A Netland
Published in: Clinical ophthalmology (Auckland, N.Z.) (2023)
Visual acuity was significantly worse in WAGR subjects with multi-gene deletion mutations compared with aniridia subjects with nonsense mutations, which corresponded to differences in standard visual function thresholds. Our results suggest that visual acuity may indicate severity of ocular involvement and variability of phenotype in aniridia and WAGR syndrome.
Keyphrases
  • case report
  • genome wide
  • transcription factor
  • optic nerve
  • genome wide identification