Partial recovery of visual function in a blind patient after optogenetic therapy

Nat Med. 2021 Jul;27(7):1223-1229. doi: 10.1038/s41591-021-01351-4. Epub 2021 May 24.

Abstract

Optogenetics may enable mutation-independent, circuit-specific restoration of neuronal function in neurological diseases. Retinitis pigmentosa is a neurodegenerative eye disease where loss of photoreceptors can lead to complete blindness. In a blind patient, we combined intraocular injection of an adeno-associated viral vector encoding ChrimsonR with light stimulation via engineered goggles. The goggles detect local changes in light intensity and project corresponding light pulses onto the retina in real time to activate optogenetically transduced retinal ganglion cells. The patient perceived, located, counted and touched different objects using the vector-treated eye alone while wearing the goggles. During visual perception, multichannel electroencephalographic recordings revealed object-related activity above the visual cortex. The patient could not visually detect any objects before injection with or without the goggles or after injection without the goggles. This is the first reported case of partial functional recovery in a neurodegenerative disease after optogenetic therapy.

Publication types

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

MeSH terms

  • Blindness / physiopathology*
  • Blindness / therapy*
  • Brain Waves / physiology
  • Dependovirus / genetics
  • Eye Protective Devices
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Humans
  • Male
  • Middle Aged
  • Optogenetics / methods*
  • Photoreceptor Cells / physiology
  • Retinal Ganglion Cells / cytology
  • Retinal Ganglion Cells / physiology
  • Retinitis Pigmentosa / pathology*
  • Vision, Ocular / physiology
  • Visual Cortex / physiology
  • Visual Perception / physiology