Ocular Manifestations of Familial High-Density Lipoprotein Deficiency (Tangier Disease)

Abstract

Corneal clouding is one of the manifestations of Tangier disease, an inherited disorder in which cholesterol-rich lipids are deposited in various tissues of the body. The cause of the corneal clouding is unknown. This study documents the clinical course and conjunctival biopsy findings of a 60-year-old man who was one of the earliest patients to be recognized with Tangier disease and in whom progressive corneal clouding developed in adult life. Noteworthy in the biopsy specimens were birefringent lipid particles that were predominantly present in degenerating pericytes of the conjunctival vessels.