Case #70: Boucher-Neuhauser Syndrome: 5 Decades of Persistence – Page 16 of 19

Conclusions

• Long-term retinal changes in BNS have not been described in the literature, and visual acuity often does not correlate with severity of chorioretinal atrophy present.⁵
  • Subtlety of the chorioretinal findings in early stages may delay a diagnosis, so regular follow-up is necessary.

• Early diagnosis is beneficial to begin hormone substitution, implement visual aids, participate in balance and speech therapy, and receive genetic counseling.³