Plasma Lecithin Deficiency (Cholesterol Acyltransferase Deficiency) 9
General: Autosomal recessive.
Ocular: Corneal stromal opacities comprising small gray dots in central and peripheral areas; retinal hemorrhages; disk protrusion; dilated veins.
Clinical: Storage of lipid materials in various tissues.
Bethell W, et al. Lecithin cholesterol acyltransferase deficiency. Light and electron microscopic findings from two corneas. Can J Ophthalmol 1975; 10:494-501.
Horven I, et al. Ocular manifestations in familial LCAT deficiency. Birth Defects 1976; 12:271-278.
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