June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Mutations in MFSD8 cause early and late onset Autosomal Recessive Macular Dystrophy in Switzerland
Author Affiliations & Notes
  • Veronika Vaclavik
    oculogenetic unit, University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland
  • Daniel F Schorderet
    oculogenetic unit, University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland
  • Francis L Munier
    oculogenetic unit, University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland
  • Hoai Viet Tran
    oculogenetic unit, University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland
  • Margarita Todorova
    University Eye Hospital, Basel, Switzerland
  • Footnotes
    Commercial Relationships   Veronika Vaclavik, None; Daniel Schorderet, None; Francis Munier, None; Hoai Tran, None; Margarita Todorova, None
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 2778. doi:
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    • Get Citation

      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)

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Abstract

Purpose : To describe the phenotype/genotype correlation of a macular dystrophy in 2 unrelated Swiss patients, identified by NGS

Methods : 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.

Results : 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.

Conclusions : 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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