Ocular Features of Multiple Sulfatase Deficiency and a New Variant of Metachromatic Leukodystrophy

Abstract

Multiple sulfatase deficiency, a newly recognized autosomal recessive disorder caused by a deficiency of several sulfatase enzymes, is characterized by psychomotor retardation, ichthyosis, and mild organomegaly. Patients with metachromatic leukodystrophy, also an autosomal recessive disorder, have a deficiency of a single sulfatase enzyme, arysulfatase A. The ocular features of a patient with multiple sulfatase deficiency and a patient with a new biochemical variant of metachromatic leukodystrophy are described. The patient with multiple sulfatase deficiency had a unique, peripheral lens opacity and a panretinal degeneration. The patient with a new variant of metachromatic leukodystrophy exhibited a cherry-red spot.