Occult white matter impairment in Leber’s hereditary optic neuropathy


  • In patients with Leber’s hereditary optic neuropathy (LHON), widespread impairment to occult white brain matter was found in a cohort of individuals with no non-vision related symptoms and no visible brain lesions.

Why this matters ?

  • LHON is a maternally inherited neurodegenerative disorder affecting the retinal ganglion cells and axons, resulting in painless loss of central vision. Pathologically, LHON is characterized by retinal nerve fiber layer (RNFL) thickening several months prior to onset followed by progressive thinning and permanent atrophy in the following years.

  • It is unclear to what extent other parts of the brain are affected by the LHON mutations. However, a range of non-ocular symptoms and changes to retinofugal pathways have been reported, suggesting further investigation is warranted.