Tangier syndrome (lipoprotein deficiency; familial high-density lipoprotein deficiency; α-lipoprotein deficiency; fish eye disease) 1

General: First seen on Chesapeake Bay Island; rare; autosomal recessive; inability to synthesize polypeptide required in the elaboration of high-density lipoprotein; choles-terol esters are stored; occurs in both sexes; onset from childhood to fifth decade of life; disorder appears to be a variant of familial lecithin-cholesterol acyltransferase (LCAT) deficiency in which the enzyme remains partly active.

Ocular: Corneal infiltrates; fine, dotted stromal opacities, most marked in posterior central third of corneal stroma; wasting of orbicularis oculi muscle.

Clinical: Maculopapular rash; orange-yellow striped tonsils; hepatosplenomegaly; lymphadenopathy; intermittent diarrhea; bilateral motor weakness.

Chu FC, et al. Ocular manifestations of familial high-density lipoprotein deficiency (Tangier disease). Arch Ophthalmol 1979; 97:1926-l928.

Hoffman HN, Fredrickson DS. Tangier disease (familial high density lipoprotein deficiency). Clinical and genetic features in two adults. Am J Med 1965; 39:582.

Kastelein JJ, et al. Familial high density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. J Intern Med 1992; 231:413-419.