Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency

J Neuroophthalmol. 2021 Mar 1;41(1):e27-e30. doi: 10.1097/WNO.0000000000000933.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biotin / therapeutic use
  • Biotinidase / blood
  • Biotinidase Deficiency / diagnosis
  • Biotinidase Deficiency / drug therapy*
  • Biotinidase Deficiency / genetics
  • Exome Sequencing
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Optic Atrophy / diagnosis
  • Optic Atrophy / drug therapy*
  • Optic Atrophy / physiopathology
  • Vision Disorders / diagnosis
  • Vision Disorders / drug therapy*
  • Vision Disorders / physiopathology
  • Visual Acuity / physiology
  • Visual Fields / physiology
  • Vitamin B Complex / therapeutic use

Substances

  • Vitamin B Complex
  • Biotin
  • Biotinidase