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Joanna Grenier, Vincent Daien, Christian P Hamel; Screening of WFS1 in autosomal recessive and dominant optic atrophies: mutation findings in non-syndromic optic atrophy and assessment of clinical severity. Invest. Ophthalmol. Vis. Sci. 2016;57(12):5062.
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© ARVO (1962-2015); The Authors (2016-present)
To search for WFS1 mutations in patients with optic atrophy (OA) and assess visual impairment.
Mutation screening in WFS1 was performed by Sanger sequencing. WFS1 Positive patients were evaluated for visual acuity and retinal nerve fiber layer (RNFL) thickness using time- or spectral-domain OCT. Statistical analysis was done.
Bi-allelic WFS1 mutations were found in 5 patients with autosomal recessive non-syndromic optic atrophy (arNSOA) and in 8 patients with autosomal recessive Wolfram syndrome (arWS) associating diabetes mellitus and OA. Heterozygous mutations were found in 6 patients with autosomal dominant Wolfram-like syndrome (adWLS) associating deafness and OA. All patients had visual acuity decrease, with LogMAR values lower in arWS than in arNSOA (1.53 vs 0.44; p=0.026) or than in adWLS (0.240, p=0.006) but not differing between arNSOA and adWLS (p=0.879). All patients had decreased RNFL thickness which was worse in arWS than in arNSOA (spectral domain, 35.50 µm vs 53.80 µm; p=0.018) or than in adWLS (time domain, 45.84 µm vs 59.33 µm; p=0.049). The highest difference was found in the inferior bundle. Visual acuity where negatively correlated with SD-OCT and OCT3 RNFL thickness(r=-0.89; p=0.003 and r=-0.75; p=0.01, respectively).
WFS1 is a gene causing autosomal recessive non-syndromic optic atrophy. Patients with this condition had significantly less visual impairment than those with arWS. Thus systematic screening of WFS1 must be performed in isolated, sporadic or familial, optic atrophies.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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