Hereditary optic neuropathies

Piero Barboni, Giacomo Savini, Alfredo A. Sadun

Research output: Chapter in Book/Report/Conference proceedingChapter


Optical coherence tomography (OCT) has improved our understanding of hereditary optic neuropathies like Leber’s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). These diseases differentially involve different zones of retinal nerve fibers that progress around the ONH as a wave. LHON carriers show a thickening of the peripapillary retinal nerve fiber layer (RNFL) in the temporal quadrant, due to a preferential involvement of the papillomacular bundle. Once visual loss occurs, the RNFL reveals an early swelling of the temporal fibers, whose thickness start decreasing soon because of atrophy. A simultaneous thickening takes place in the inferior RNFL sectors for the first 3 months, after which the fibers begin to thin. The superior and nasal sector are involved later. Once the optic nerve is atrophic, all RNFL quadrants are thinner. Analysis of the optic nerve head (ONH) reveals that larger optic discs are associated with a better prognosis. In DOA, the RNFL reveals diffuse atrophy in all quadrants. The RNFL thinning is more pronounced in the temporal and inferior quadrants and less evident in the superior and nasal ones. Analysis of the macular ganglion cells suggests an earlier involvement of the macular area.

Original languageEnglish
Title of host publicationOCT in Central Nervous System Diseases: The Eye as a Window to the Brain
PublisherSpringer International Publishing
Number of pages19
ISBN (Electronic)9783319240855
ISBN (Print)9783319240831
Publication statusPublished - Jan 1 2016


  • DOA
  • LHON
  • Macular microcyst
  • Mitochondria
  • MtDNA
  • OCT
  • Optic disk
  • Retinal ganglion cell
  • RGC
  • RNFL

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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