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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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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.
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.
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).
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.
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