Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disease with complete penetrance and great variability even within the same mutation.

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Sorsby Pseudoinflammatory Fundus Dystrophy

  • Kristina J. Hartung,
  • Stephen H. Tsang,
  • Tarun Sharma,
  • Vlad Diaconita

摘要

Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disease with complete penetrance and great variability even within the same mutation.