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Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo.

Hsin-Ho ChangAn-Guor WangDau-Ming NiuYun-Ru ChenChang-Chi Weng
Published in: European journal of ophthalmology (2024)
Our findings underscore the diversity in clinical presentations associated with FEVR, emphasizing the pivotal role of genetic evaluation. Despite variations in severity between the eyes of the same patient, it is crucial to remain vigilant for potential progression to a pathological status in the seemingly normal eye. Additionally, this study contributes to expanding the genetic spectrum of FEVR.
Keyphrases
  • genome wide
  • copy number
  • case report
  • early onset
  • dna methylation
  • age related macular degeneration
  • human health