Vrabec M P, Shapiro M B, Koller E, Wiebe D A, Henricks J, Albers J J
Department of Ophthalmology, University of Wisconsin Medical School, Madison.
Arch Ophthalmol. 1988 Feb;106(2):225-9. doi: 10.1001/archopht.1988.01060130235035.
Lecithin cholesterol acyltransferase is an enzyme that esterifies free cholesterol. A complete deficiency of this enzyme results in a diffusely cloudy cornea. This deficiency is thought to be transmitted as an autosomal recessive trait. We studied a family in which four members were homozygote recessive. In the homozygote recessive condition, a central corneal haze caused by deposition of numerous minute gray dots was consistently present. In the heterozygote condition, arcuslike changes were present in some of the patients studied. We found the corneal change in the recessive state to be sensitive and specific as a marker of this condition. Heterozygotes appear to have a higher incidence of arcuslike corneal changes.
卵磷脂胆固醇酰基转移酶是一种使游离胆固醇酯化的酶。该酶完全缺乏会导致角膜弥漫性浑浊。这种缺乏被认为是以常染色体隐性性状遗传的。我们研究了一个家族，其中四名成员为纯合隐性。在纯合隐性状态下，由大量微小灰色斑点沉积引起的中央角膜混浊始终存在。在杂合状态下，部分研究患者出现了弓状改变。我们发现隐性状态下的角膜改变作为这种情况的标志物具有敏感性和特异性。杂合子似乎有更高的弓状角膜改变发生率。
