Lecithin-Cholesterol Acyltransferase (LCAT) Deficiency
General: LCAT enzyme involved in metabolism of 535f54f cholesterol deficiency; autosomal recessive; rare.
Ocular: Cloudy cornea; diplopia; photophobia; corneal opacities.
Clinical: Autoimmune hyperlipoproteinemic anemia; renal failure; hypertension.
Kasper DL, et al., eds. Harrisons Principles of Internal Medicine, 16th ed. New York: McGraw-Hill, 2005.
Klein HG, et al. Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis. J Clin Invest 1993; 92:479-485.
Vrabec MP, et al. Ophthalmic observation in lecithin cholesterol acyltransferase deficiency. Arch Ophthalmol 1988; 106:225-229.
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