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Veronika Vaclavik, Daniel F Schorderet, Francis L Munier, Hoai Viet Tran, Margarita Todorova; Mutations in MFSD8 cause early and late onset Autosomal Recessive Macular Dystrophy in Switzerland. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2778.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the phenotype/genotype correlation of a macular dystrophy in 2 unrelated Swiss patients, identified by NGS
Two unrelated patients from 2 different kindred diagnosed with progressive macular dystrophy were studied. Full ophthalmological evaluation including fundus color photography, optical coherence tomography (OCT), fundus autofluorescence (fAF) and electroretinography, molecular diagnosis, and natural course are reported.
Next generation sequencing revealed a MFSD8 compound heterozygote mutation (881C>A, 1006 G>C) in one patient, and (1141G>T, 1009 C>T) in the other patient. Age of onset was variable: one patient had an early onset, with reducing VA since she was 12 years old. Second patient had symptoms in his early fifties. Initial fundus examinations showed central atrophy, which was hypo fluorescent on autofluorescence imaging. Both had full field ERGs within normal limits. Mf ERG showed the N1 and N1P1 amplitudes severely reduced within the central retina. OCT revealed a localized subfoveal cystic space due to the absence of ellipsoid layer, which enlarged over time.
Macular dystrophy due to mutations in MFSD8 gene, identified by Next Generation Sequencing, seem to be more frequent than initially thought. The age of onset is variable and can have rapid progression rate.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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