Macular discoloration found in the fundus

Austin-type infant cerebral sulfatosis is also called Austin-type heterochromatic leukotrophy, which is a combined disease of cerebral sulfatosis and mucopolysaccharidosis. It is characterized by a mild Hurler syndrome face, multiple bone dysplasia, severe neurological symptoms, and markedly reduced intelligence. Fundus examination can reveal that the macula is grayish discolored, and may even become blind later.