Van Bogaert-Scherer-Epstein Syndrome (Primary Hyperlipidemia; Familial Hypercholesterolemia Syndrome) 232f53c 232f53c 232f53c 232f53c 232f53c 232f53c 232f53c 232f53c
General: Autosomal dominant; high serum lipoprotein; both sexes affected; onset at all ages.
Ocular: Xanthelasma; arcus juveniles of the cornea; lipid keratopathy; cataract; retinopathy with yellowish deposits and cholesterol crystals have been reported but are more rare manifestations.
Clinical: Xanthelasmatosis of skin and tendons; progressive atherosclerosis; coronary insufficiency; cardiac infarcts; dementia; progressive ataxia; cerebral infarction; poly-neuropathy.
Blodi FC, Yarbrough JC. Ocular manifestation of familial hypercholesterolemia. Am J Ophthalmol 1963; 55:714.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Hoeg JM. Familial hypercholesterolemia. What the zebra can teach us about the horse. JAMA
Ihara Y, et al. A family of familial hypercholesterolemia with cerebral infarction and without coronary heart disease. An unusual case with corneal opacity, polyneuropathy and carpal tunnel syndrome in the family: therapy with probucol and tocopherol nicotinate. J Neural Sci 1991; 106:10-l8.
van Bogaert A, et al. Une Forme Cerebrale de Cholesterinose Generalisee. Paris: Masson, 1937.
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