[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address 54.205.111.118. Please contact the publisher to request reinstatement.
[Skip to Content Landing]
Article
February 1988

Ophthalmic Observations in Lecithin Cholesterol Acyltransferase Deficiency

Author Affiliations

From the Departments of Ophthalmology (Drs Vrabec and Shapiro), Medicine (Dr Koller), Pathology and Laboratory Medicine (Dr Wiebe), and Medical Genetics (Ms Henricks), University of Wisconsin Medical School, Madison; and Department of Medicine, University of Washington School of Medicine, Seattle (Dr Albers). Dr Vrabec is now with the University of Iowa Hospitals, Iowa City.

Arch Ophthalmol. 1988;106(2):225-229. doi:10.1001/archopht.1988.01060130235035
Abstract

• 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 chanaes.

References
1.
Glosmet J, Norum K, Gjone E:  Familial LCAT deficiency , in Stanbury FB, Wyngaarden JB, Frederickson DS (eds): The Metabolic Basis of Inherited Disease , ed 5. New York, McGraw-Hill International Book Co, 1982, chap 31.
2.
Teisberg P, Gjone E:  Genetics of LCAT deficiency . Ann Hum Genet 1975;38:327-331.Article
3.
Hesterberg R, Tredici T:  Corneal opacification and lecithin cholesterol acyltransferase deficiency: A case report . Ann Ophthalmol 1984;16:616-621.
4.
Albers J, Chen C, Adolphson J:  Familial lecithin-cholesterol acyltransferase: Identification of heterozygotes with half-normal enzyme activity and mass . Hum Genet 1981;58:306-309.Article
5.
Torsvik H, Gjone E, Norum K:  Familial plasma cholesterol ester deficiency: Clinical studies of a family . Acta Med Scand 1968;183:387-391.Article
6.
Gjone E, Bergaust B:  Corneal opacity in familial cholesterol ester deficiency . Acta Ophthalmol 1969;47:222-227.Article
7.
Krachmer JH, Dubord PJ, Rodrigues MM, et al:  Corneal posterior crocodile shagreen and polymorphic amyloid degeneration: A histopathologic study . Arch Ophthalmol 1983;101:54-58.Article
8.
Horven I, Egge K, Gjone E:  Corneal and fundus changes in familial LCAT deficiency . Acta Ophthalmol 1974;52:201-210.Article
9.
Bethell W, McCulloch C, Ghosh M:  Lecithin cholesterol acyltransferase deficiency: Light and electron microscopic findings from two corneas . Can J Ophthalmol 1975;10:494-501.
10.
Winder A, Bron A:  Lecithin cholesterol acyltransferase deficiency presenting as visual impairment with hypercholesterolemia and normal renal function . Scand J Clin Lab Invest 1978;38( (suppl) ):151-155.Article
11.
Gjone E:  Familial lecithin cholesterol acyltransferase deficiency: A clinical survey . Scand J Clin Lab Invest 1974;33( (suppl 137) ):73-82.Article
12.
Bron A, Lloyd J, Fosbrooke A, et al:  Primary LCAT deficiency disease . Lancet 1975;1:928-929.Article
13.
Frohlich J, Godolphin W, Reeve C, et al:  Report of two patients from a Canadian family of Italian and Swedish descent . Scand J Clin Lab Invest 1978;38( (suppl) ):156-161.Article
×