Ocular findings of multiple sulfatase deficiency [Austin's Disease]

ABSTRACT

Multiple Sulfatase Deficiency [MSD], or Austin's Disease, is an autosomal recessive disease of unknown etiology caused by deficiency of several sulatase enzymes. We describe a female patient with MSD. Age of onset was in the neonatal period. The patient presented with somatic and coarse facial features of mucopolysaccharidosis reminiscent of HurlerSyndrome. She had macrocephaly, hirsuitism, prominent gibbus, prognatism, scaphocephalic head, widened wrists, short stubby fingers, abdominal distention, mental retardation, dementia, proptosis, corneal cloudiness and optic disc pallor. Skeletal survey was consistent with MPS. Steroid sulfatase activity was normal. The ocular features of MSD are discussed