Background of BNS

  • Boucher-Neuhauser Syndrome was first described in 1969 and consists of a rare triad of deficits in the cerebellum, gonadic endocrinology, and retina.2
  • Symptoms can vary widely and present at varying ages, but often include ataxia or vision loss experienced first, in addition to delayed puberty.3
  • A review of BNS patients found 20% with severe visual loss and almost 100% with oculomotor dysfunction, including vertical nystagmus.3