April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Asymptomatic Carriers With Leber’s Hereditary Optic Neuropathy Often Demonstrate Visual Field Defects
Author Affiliations & Notes
  • C. F. Chicani
    Ophthalmology, USC + Federal University of Sao Paulo, Los Angeles, California
  • P. A. Quiros
    Ophthalmology, University of Southern California, Los Angeles, California
  • P. Barboni
    Studio d'Azeglio, Bologna, Italy
  • F. Sadun
    Ophthalmology, Ospedale S Giovanni Evangelista, Tivoli, Italy
  • M. Moraes
    Ophthalmology, Eye Institue of Colatina, Colatina, Brazil
  • D. F. Ventura
    Experimental Psychology, University of Sao Paulo, Sao Paulo, Brazil
  • A. Berezovsky
    Ophthalmology,
    Federal University of Sao Paulo, Sao Paulo, Brazil
  • V. Carelli
    Neurological Sciences, University of Bologna, Bologna, Italy
  • S. R. Salomao
    Dept of Ophthalmology,
    Federal University of Sao Paulo, Sao Paulo, Brazil
  • A. A. Sadun
    Neuro-Ophthal/Keck-USC Sch of Med, Doheny Eye Institute, Los Angeles, California
  • Footnotes
    Commercial Relationships  C.F. Chicani, None; P.A. Quiros, None; P. Barboni, None; F. Sadun, None; M. Moraes, None; D.F. Ventura, None; A. Berezovsky, None; V. Carelli, None; S.R. Salomao, None; A.A. Sadun, None.
  • Footnotes
    Support  IFOND and Edison Pharmaceuticals, Inc
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 3839. doi:
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    • Get Citation

      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.

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

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Abstract

Purpose: : To describe and quantitate visual field findings in asymptomatic carriers of Leber's Optic Hereditary Neuropathy (LHON)

Methods: : 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).

Results: : 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)

Conclusions: : 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

Keywords: neuro-ophthalmology: diagnosis • visual fields • clinical (human) or epidemiologic studies: natural history 
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