Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
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.
D002386:Cataract / Q000209:etiology* / Q000473:pathology; D005128:Eye Diseases / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009154:Mutation; D012162:Retinal Degeneration / Q000209:etiology* / Q000473:pathology; D013429:Sulfatases / Q000172:deficiency* / Q000235:genetics
D013429:Sulfatases