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Subclinical visual abnormalities are common in with 11778 LHON from a 300 member brazilian pedigree

A A Sadum S R Salomão; A Berezovisky; Dora Selma Fix Ventura; P Quiros; F Sadun; A M DeNegri; J Sherman; T Lam; V Carelli; Annual Meeting of the Association for Research in Vision and Ophthalmolgy of Genetic (2004 Lauderdale)

Lauderdale v. 45, p. Abstract 1012, 2004 Investigative Ophthalmology and Vision Science

Lauderdale 2004

Localização: IP - Instituto de Psicologia    (Resumo digitado (AM=VDo/87) ) e outros locais(Acessar)

  • Título:
    Subclinical visual abnormalities are common in with 11778 LHON from a 300 member brazilian pedigree
  • Autor: A A Sadum
  • S R Salomão; A Berezovisky; Dora Selma Fix Ventura; P Quiros; F Sadun; A M DeNegri; J Sherman; T Lam; V Carelli; Annual Meeting of the Association for Research in Vision and Ophthalmolgy of Genetic (2004 Lauderdale)
  • Assuntos: CONTRASTE; PERCEPÇÃO DE COR
  • É parte de: Lauderdale v. 45, p. Abstract 1012, 2004 Investigative Ophthalmology and Vision Science
  • Descrição: Purpose: To carefully examine and measure, through a variety of highly sophisticated tests of structure and function, LHON Carriers who had no visual complaints or obvious impairments of vision. Methods: We carefully re-examined 71 carriers of 11778 LHON MtDNA mutant and 77 age matched controls that have been followed for two years as part of our field investigation of this pedigree. Inclusion criteria in both groups were absence of known ophthalmologic or neuro-ophthalmologic complaints and 20/30 or better best corrected VA. All subjects underwent a neuro-ophthalmologic investigation including formal visual fields (Humphrey-HVF) and fundus photopraphy. In addition, many of our subjects underwent sophisticated psychophysical examination including Cambridge Research Systems color vision and contrast sensitivity testing. GDx, HRT, and multifocal (mf) VERs and ERGs. Serological testing for NSE and oxidative stres was also conducted. Results: Most of these LHON Carriers did, in fact, show subclinical or occult abnormalities. In particular, we found microangiopathy (26/71=36%), and focal edema or arcuate nerve fiber bundles (28/71=39%) in one or more eyers. Coresponding areas of relative paracentral or arcuate scotomas were seen in 30% on HVF testing, and paracentral areas of decreased amplitude on mfERG and mfVER. Further, there were. Conclusions: Pre-clinical functions losses have been shown to exist in LHON carriers (Sadun and cols., ARVO 2002). in the same line, we now report luminance and chromatic CS losses in the carriers of the MtDA 11778 mutation. The CS losses affected all spatial frequencies, without preferential impairment of either the magno-or parvocellular pathways. An important finding is that the blue system is spared in LHON, as indicated by the equiluminance data.
  • Editor: Lauderdale
  • Data de criação/publicação: 2004
  • Formato: p. Abstract 1012.
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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