Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study

Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study

Autor Quiros, Peter A. Google Scholar
Torres, R. J. Google Scholar
Salomão, Solange Rios Autor UNIFESP Google Scholar
Berezovsky, Adriana Autor UNIFESP Google Scholar
Carelli, Valerio Google Scholar
Sherman, Jerome Google Scholar
Sadun, Federico Google Scholar
Negri, Anna Maria de Google Scholar
Belfort, Rubens Junior Autor UNIFESP Google Scholar
Sadun, Alfredo Arrigo Google Scholar
Instituição Doheny Eye Inst
Universidade Federal de São Paulo (UNIFESP)
Univ Bologna
SUNY Coll Optometry
Resumo Aims: To determine if asymptomatic carriers from a previously identified large pedigree of the Leber's hereditary optic neuropathy (LHON) 11778 mtDNA mutation have colour vision deficits.Methods: As part of a comprehensive analysis of over 200 members of a large Brazilian LHON pedigree spanning seven generations, colour vision tests were obtained from 91 members. Colour vision was tested one eye at a time using the Farnsworth-Munsell 100 (FM-100) hue colour vision test. the test was administered under uniform conditions, taking into account: ambient light levels, daylight colour temperature of 6700 kelvin, and neutral uniform background. Tests were scored using the FM-100MS-Excel computer scoring program. Defects were determined and categorised as tritan, deutan, or protan. Categorisation of each dyschromatopsia was based on review of demonstrated axis computer generated plots and age adjusted error scores which coincided with Verriest 95% confidence intervals. Only the axis with the greatest magnitude error score was used to classify the defect. 55 of the 91 test subjects were LHON mtDNA 11778 J haplotype mutation carriers, proved by mtDNA analysis. the remaining 36 subjects were age matched non-blood relatives (off pedigree), who served as controls.Results: 27 of 55 carriers (49.10%) were shown to have colour vision defects in one or both eyes. 13 of the 27 (48%) abnormal tests in the carrier group were tritan defects and the remaining 14 (52%) were deutan defects. Nine of the 27 (33%) abnormals in the carrier group were identified as having bilateral defects. Six of these were deutan, and the remaining three were tritan dyschromatopsias. Only six of the 36 (16.66%) age matched controls were found to have any type of dyschromatopsia. Five (83.3%) of these were deutan defects. the remaining one was a tritan defect. the difference between the two groups using alpha chi (2) test with one degree of freedom was statistically significant with a p value less that 0.001.Conclusions: Until now, LHON has always been characterised by a sudden, devastating vision loss. Asymptomatic carriers, those without vision loss, were considered unaffected by the disease. It now appears that asymptomatic carriers of the LHON mutation are affected by colour vision defects and may manifest other subtle, yet chronic, changes.
Idioma Inglês
Data 2006-02-01
Publicado em British Journal of Ophthalmology. London: B M J Publishing Group, v. 90, n. 2, p. 150-153, 2006.
ISSN 0007-1161 (Sherpa/Romeo, fator de impacto)
Editor B M J Publishing Group
Extensão 150-153
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000234721300009

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