Abstract |
Familial lecithin: cholesterol acyltransferase ( LCAT) deficiency is an inborn error of lipid metabolism clinically characterized by anemia, proteinuria, and corneal opacification. The authors review the literature dealing with 34 biochemically proven and 2 probable cases of LCAT deficiency, and describe the first case from a German-speaking country. Ocular findings were bilateral diffuse nebulous corneal opacification composed of innumerable minute grayish dots throughout the stroma. At the periphery of the cornea these dots increased, forming a ringlike band with indistinct margins. A small lipid deposit was also seen in the retina of the right eye. Vision was 20/20, but glare disability was significantly increased. Corneal opacification was also noticed in all cases of the literature. Anemia was detected at the time of diagnosis in 92% and proteinuria in 76% of the reviewed cases. Corneal opacification is the one absolutely obligatory clinical feature; moreover it is uniform and pathognomonic: a true indicating sign of LCAT deficiency.
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Authors | E G Weidle, W Lisch |
Journal | Klinische Monatsblatter fur Augenheilkunde
(Klin Monbl Augenheilkd)
Vol. 190
Issue 3
Pg. 182-7
(Mar 1987)
ISSN: 0023-2165 [Print] Germany |
Vernacular Title | Hornhauttrübung als Leitsymptom des hereditären Lecithin-Cholesterin-Acyltransferase-(LCAT-) Mangels. |
PMID | 3586537
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adult
- Corneal Opacity
(genetics, pathology)
- Corneal Stroma
(pathology)
- Female
- Humans
- Hypolipoproteinemias
(genetics)
- Lecithin Cholesterol Acyltransferase Deficiency
(genetics, pathology)
- Pedigree
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