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S. E. Watanabe, F. Sadun, A. M. De Negri, V. Carelli, P. Barboni, C. Do Val Ferreira Ramos, M. N. Moraes Filho, J. Sherman, R. Cinoto, A. A. Sadun; Optic Disc Size Does Not Influence Occurance of Fundoscopic Abnormalities in Asymptomatic LHON Carriers. Invest. Ophthalmol. Vis. Sci. 2007;48(13):2471.
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© ARVO (1962-2015); The Authors (2016-present)
Fundoscopic abnormalities in asymptomatic Leber’s Hereditary Optic Neuropathy (LHON) individuals have been described and correlated to other signs of subclinical optic nerve disfunction (Sadun F et al ARVO 2006 #B673); Savini et al( ARVO 2006 #B674) showed that LHON affected have a smaller disc compared to asymptomatic carriers and concluded that a small optic disc may, as in non arteritic AION, be a risk factor for developing the acute phase of LHON whereas, a larger disc may be protective. The purpose of the present study is to assess whether optic disc size, as measured byOCT, correlates with the presence of other fundoscopic abnormalities in asymptomatic LHON individuals.
Since 2001 we have evaluated and systematically re-examined about 285 individuals belonging to the Brazilian SOA-BR LHON pedigree carrying the homoplasmic 11778/haplogrop J mtDNA. Unaffected carriers underwent yearly serial comprehensive neuro-ophthalmological examinations; only those that were observed at least three times in the last four years were included in this study. Fundus examination was judged abnormal when temporal pallor (TP) or the combination of NFL swelling and microangiopathy (S+M) were observed in at least two out of three yearly consecutive examinations. Optic disc size was measured by Optical Coherence Tomography (OCT) Stratus III
Forty-nine individuals were included in the study. Eighteen (18) individuals showed fundus abnormalities. OCT was available for 43 individuals. Optic disc size was similar for males and females; also there was not significant difference between genders in regards to optic disc size or between individuals with normal fundus and with fundus abnormalities.
Optic disc size did not show correlation with fundoscopic abnormalities detected in asymptomatic LHON carriers. It is therefore possible that funduscopic abnormalities can develop in carriers independent of optic disc size as an early sign of LHON but that individuals having both a small optic disc and funduscopic abnormalities are most likely to be at greater risk of progressing toward the acute phase of the disease.
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