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C. F. Chicani, P. A. Quiros, P. Barboni, F. Sadun, M. Moraes, D. F. Ventura, A. Berezovsky, V. Carelli, S. R. Salomao, A. A. Sadun; Asymptomatic Carriers With Leber’s Hereditary Optic Neuropathy Often Demonstrate Visual Field Defects. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3839. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
To describe and quantitate visual field findings in asymptomatic carriers of Leber's Optic Hereditary Neuropathy (LHON)
46 eyes of 23 maternally related asymptomatic carriers from a large LHON Brazilian pedigree with homoplasmic 11778/ND4 haplogroup J mutant mitochondrial DNA, underwent visual field examination by 24-2 Humphrey testing. Inclusion criteria included normal ophthalmologic exam, and best corrected visual acuity > 20/25. Exclusion criteria included unacceptable reliability or foveal threshold smaller than 35 dB. The pattern deviation map was defined as abnormal if one or more points were depressed to values of less than 0.5%, 3 or more of less than 1.0%, five or more of less than 2% and seven or more of less than 5% probability of being normalThe abnormal fields were categorized, according to the defect shape as localized (L), or diffuse (D). L defects were sub classified as glaucomatous (LG) or non glaucomatous (LNG). Groups and subgroups were also analyzed for mean deviation (MD) and pattern standard deviation (PSD).
Only 16 (38%) of the 42 eyes that met inclusion criteria, demonstrated normal visual fields.In contradistinction most carriers (62%) had abnormal visual fields: 46% of them had diffuse loss, 64% localized losses; 72% were non glaucomatous and 28% glaucomatous. For the normal group MD was -1.09 (+0.17 to - 2.23) and PSD was 1.53 (1.10 to 2.02). For the abnormal MD was -3.99 (+2.11 to -18.10) and PSD was 3.10 (1.60 to 6.88)
More than half of the asymptomatic carriers presented with visual field defects; yet these patients were without symptoms or decrease in visual acuity. Humphrey visual fields 24-2 can be used to identify and monitor subclinical disease in carriers of LHON. We will compare these with other functional and anatomic assessments in asymptomatic carriers to determine whether such visual field abnormalities are harbingers of impending blindness that characterizes conversion to affected status
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