Corneal arcus

Patients with genetic disorders that cause a marked increase in serum LDL cholesterol (greater than 250 mg/dL [6.48 mmol/L]) may present with corneal arcus of the eye and xanthomas of extensor tendons of the hand and Achilles tendon. 

Patient Population. The proband of the B family, T.B., was referred to the Lipid Research Clinic at The Johns Hopkins Hospital at the age of five years because of hypercholesterolemia of 900 mg/100 ml. She had multiple planar xanthomas that had first appeared at three years of age. The patient was free of symptoms of ischemic heart disease. The index lipoprotein pattern was type lib (57), with marked hypercholesterolemia, hyperbeta-lipoproteinemia, a mild hyperprebetalipoproteinemia and hypertriglyceridemia. None of the relatives of T.B. had xanthomas or corneal arcus one (J.S.) developed signs of premature coronary atherosclerosis at the age of 43 years. Increased total plasma and LDL cholesterol levels were transmitted over three generations on both maternal and paternal sides of the family (Fig. I). The parents of the proband, S.B. and K.B., had endogenous hypertriglyceridemia as well. Two normolipidemic members of this family (S.B., Jr. and E.B.), were also studied. 

The finding of corneal arcus in adolescents and younger adults should always be considered suggestive of EFH or other disturbances of lipid metabolism. In higher age groups it is a frequent finding. Rohrschneider (1960) reported from biomicroscopic examinations of the cornea of 400 patients at the Munich Eye Clinic a prevalence of 80% in persons between 50 and 60 years, and of 90% in the 7th decade. 

A common disorder very strong associations with premature ischaemic heart disease (IHD) children who are homozygotes for the disorder exhibit features of IFID in the first decade of life xanthomas (massive accumulation of cholesterol in the skin) and corneal arcus (white ring in the eyes) are common features of the disease occurs both as a heritable disorder and secondary to hypothyroidism... 

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