Walsh & Hoyt: Storage Diseases and Cerebral Degenerations of Childhood

About 100 inherited metabolic diseases with ocular manifestations have been described. Among these, the lysosomal storage disorders are monogenic inborn errors of metabolism with heterogeneous pathophysiology and clinical manifestations. They represent more than 40 disorders, each of which is caused by the deficiency of a lysosomal enzyme or other protein. The stored material is usually a complex lipid or saccharide, and the nervous system is commonly affected. The inheritance pattern in these diseases is almost always recessive, usually autosomal recessive, but occasionally X-linked.