Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers

Piero Barboni, Giacomo Savini, William J. Feuer, Donald L. Budenz, Michele Carbonelli, Filipe Chicani, Carolina do V F Ramos, Solange R. Salomao, Annamaria de Negri, Vincenzo Parisi, Valerio Carelli, Alfredo A. Sadun

Research output: Contribution to journalArticlepeer-review


Purpose. Recent investigations suggested that unaffected carriers of Leber hereditary optic neuropathy (LHON) may show subclinical visual alterations. Structural changes have also been detected by optical coherence tomography (OCT), which revealed a temporal thickening of the retinal nerve fiber layer (RNFL). These changes may reflect compensatory effects such as mitochondria accumulation within the RNFL axons. This study aimed to investigate whether the RNFL of LHON carriers shows greater than expected thickness variations, which may reflect transient subclinical changes, over the course of years. Methods. Using Stratus OCT, the RNFL thickness was measured yearly from 2005 to 2008 in 24 Brazilian LHON carriers, all with homoplasmic 11778/ND4 mtDNA mutation. An Italian sample of 20 healthy subjects served as a control. Data were compared also to a previously published sample (n=59) of glaucomatous eyes. Results. The LHON carriers showed test-retest standard deviations that were larger than normal controls in the temporal (p=0.004), superior (p

Original languageEnglish
Pages (from-to)985-991
Number of pages7
JournalEuropean Journal of Ophthalmology
Issue number6
Publication statusPublished - Nov 2012


  • Leber hereditary optic neuropathy
  • Retinal nerve fiber layer thickness

ASJC Scopus subject areas

  • Ophthalmology


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