Diagnostic morphology of human eye-related storage disorders

Abstract

While retina and other ocular tissues are involved clinically and morphologically in a variety of lysosomal disorders, it is only the conjunctiva that is accessible by biopsy to morphological, i.e., electron microscopic recognition of the patient's individual lysosomal disease. However, this procedure is not utilized by many. Instead, skin and circulating lymphocytes are the most frequently obtained tissues for diagnostic investigation, as skin contains an abundance of diversified cell types for morphological examination and simultaneously fibroblasts to be cultured for biochemical investigation. It is the tissue most suitable for identifying lysosomal disorders and parallels in diagnostic significance that of the conjunctiva. Skeletal muscle, liver and peripheral nerves are only rarely biopsied in elucidating a lysosomal disorder, to-day largely due to ignorance of the examiner who orders a biopsy without prior consultation of either the biochemist or the neuropathologist.