Corneal Manifestations of Metabolic Disease

Abstract

The optical clarity of the cornea permits visualization of subtle deposition of metabolites not possible in other tissues of the body. This chapter concentrates on disorders of metabolism that have clinically observable changes in the cornea that may help to establish or confirm a systemic diagnosis. Such disorders may indicate disturbances in aspects of metabolism involving amino acids, lipids, or complex carbohydrates. Most metabolic diseases are inherited in an autosomal recessive manner. Hunter's syndrome and Fabry's disease are two notable exceptions, both of which are X-linked. Generally, the metabolic disorder is a result of an enzymatic deficiency causing an accumulation of substrates either locally or after transport into the blood stream.