- Case Report
Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review
- Michael P. Schittkowski,
- Sabine Naxer,
- Mohamed Elabbasy,
- Leonie Herholz,
- Vivian Breitling,
- Alan Finglas,
- Jutta Gärtner and
- Lars Schlotawa
Multiple sulfatase deficiency (MSD) is an extremely rare autosomal recessively inherited disease with a prevalence of 1:500.000 caused by mutations on the sulfatase-modifying-Factor 1 gene (SUMF1). MSD is most specifically characterised by a combinat...

