April 2009
Volume 50, Issue 13
ARVO Annual Meeting Abstract  |   April 2009
Longitudinal Evaluation of Retinal Nerve Fiber Layer Thickness in Leber’s Hereditary Optic Neuropathy Carriers Shows Relevant Variability Over Time
Author Affiliations & Notes
  • P. Barboni
    Studio d'Azeglio, Bologna, Italy
  • C. D. Ramos
    Ophthalmology, UNIFESP, São Paulo, Brazil
  • G. Savini
    Studio d'Azeglio, Bologna, Italy
  • M. Carbonelli
    Studio d'Azeglio, Bologna, Italy
  • F. Sadun
    Ospedale San Giovanni, Tivoli, Italy
  • A. De Negri
    Azienda San Camillo-Forlanini, Rome, Italy
  • A. Berezovsky
    Ophthalmology, UNIFESP, São Paulo, Brazil
  • S. R. Salomao
    Ophthalmology, UNIFESP, São Paulo, Brazil
  • A. A. Sadun
    Doheny Eye Institute and Department of Ophthalmology, Los Angeles, California
  • V. Carelli
    Dipartimento di Scienze Neurologiche, Bologna, Italy
  • Footnotes
    Commercial Relationships  P. Barboni, None; C.D. Ramos, None; G. Savini, None; M. Carbonelli, None; F. Sadun, None; A. De Negri, None; A. Berezovsky, None; S.R. Salomao, None; A.A. Sadun, None; V. Carelli, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 934. doi:
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      P. Barboni, C. D. Ramos, G. Savini, M. Carbonelli, F. Sadun, A. De Negri, A. Berezovsky, S. R. Salomao, A. A. Sadun, V. Carelli; Longitudinal Evaluation of Retinal Nerve Fiber Layer Thickness in Leber’s Hereditary Optic Neuropathy Carriers Shows Relevant Variability Over Time. Invest. Ophthalmol. Vis. Sci. 2009;50(13):934.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: : To analyze longitudinally the retinal nerve fiber layer (RNFL) thickness of Leber’s Hereditary Optic Neuropathy carriers (LHON-carriers) by means of optical coherence tomography (OCT).

Methods: : Sixty-two LHON-carriers were investigated during the Fifth, Sixth, Seventh and Eight International Field Investigation in Colatina, Brazil, between 2005 and 2008. All subjects are maternally related and belong to the same LHON Brazilian family carrying the homoplasmic 11778/ND4 mtDNA mutation on a haplogroup J background. The RNFL thickness was analyzed by StratusOCT using the 3.4 RNFL acquisition protocol. Changes of RNFL thickness for each quadrant and the 360° average were considered true (rather than the consequence of intersession variability of StratusOCT measurements) if they were higher than the previously reported tolerance limit of the instrument, defined as the intersession standard deviation multiplied by 2.77 (according to Budenz et al, Ophthalmology 2008;115:661). Only one eye for each subject was considered for analysis.

Results: : Twenty-three subjects had completed all annual examinations and were included in this study. Eleven of them (48%) showed RNFL thickness changes in at least one quadrant; in 4 eyes (17%) RNFL changes were observed in at least two quadrants. The incidence of RNFL changes was higher in the superior and inferior quadrants (5 eyes, 22%), than in the temporal (4 eyes, 18%) and nasal (2 eyes, 9%) quadrants. RNFL changes were not correlated to the optic disc area.

Keywords: neuro-ophthalmology: optic nerve • mitochondria 

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