April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Follow Up of Families With Syndromic Autosomal Dominant Optic Atrophy (SADOA)
Author Affiliations & Notes
  • M. Crochet
    Neuro-ophtalmologie et Exploration de la Vision,
    Hopital Universitaire, Lille, France
  • B. Puech
    Neuro-ophtalmologie et Exploration de la Vision,
    Hopital Universitaire, Lille, France
  • I. Drumare
    Neuro-ophtalmologie et Exploration de la Vision,
    Hopital Universitaire, Lille, France
  • P. Bonneau
    U694, INSERM, Angers, France
  • A. Lacour
    Dpt Neurologie,
    Hopital Universitaire, Lille, France
  • F. Gabanou
    Dpt ORL,
    Hopital Universitaire, Lille, France
  • S. Defoort
    Neuro-ophtalmologie et Exploration de la Vision,
    Hopital Universitaire, Lille, France
  • Footnotes
    Commercial Relationships  M. Crochet, None; B. Puech, None; I. Drumare, None; P. Bonneau, None; A. Lacour, None; F. Gabanou, None; S. Defoort, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1002. doi:
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      M. Crochet, B. Puech, I. Drumare, P. Bonneau, A. Lacour, F. Gabanou, S. Defoort; Follow Up of Families With Syndromic Autosomal Dominant Optic Atrophy (SADOA). Invest. Ophthalmol. Vis. Sci. 2010;51(13):1002.

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

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Abstract

Purpose: : To study the evolution of SADOA with multi-systemic disorders.ADOA is the most frequent form of inherited optic atrophy. Genetically heterogeneous, the major gene is OPA1 encoding a mitochondrial protein.The main clinical features are progressive visual loss with insidious onset, dyschromatopsia, centro-caecal scotoma and optic disc pallor. In some instances, systemic abnormalities are associated with this clinical presentation.

Methods: : Follow up for 40 years of 3 families (14 patients) affected with SADOA among 195 cases of optic atrophy (OA).One of them is a 4-generation family. 2 families have the R445H OPA1 mutation; a third family has G401D OPA1 mutation.Performed investigations were : colour vision, visual field (with Esterman score), Visual Evoked Potentials (VEP), Flash electroretinogram (ERG), and recently Pattern and Multifocal ERG s, and Optical Coherence Tomography.

Results: : Deafness and visual loss began in childhood and were often ignored by the parents. In one case deafness was observed first. 11 patients were 4 to 19 years old at the first examination. The visual acuity (VA) was 1,3 to 0 logMAR (Mean 0,9). 7/11 became legally blind and for 5/11 VA was lower than 0,4 between age of 20 and 50. Esterman score was 8% before 20 to 68 % at 50. Pattern VEP were normal (1) to non recordable (6). 2 patients had tritanopia, for 6 no axis was found.The speech recognition was severely impaired even if the tone thresholds were moderately elevated: disability increased in adulthood.Several severe neurological disorders affected patients when aging (from15 to 50): external ophthalmoplegia (1), central (2) peripheral (1) and muscle disorders (4).

Conclusions: : In SADOA, the systemic disorders are slowly progressing and often underestimated. Deafness must be actively searched since a cochlear implant may help to speech recognition. The level of OA must be evaluated to allow for adjusting the education. A long term follow up is necessary to look out for the neurological signs.

Keywords: visual impairment: neuro-ophthalmological disease • genetics • electrophysiology: clinical 
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