[Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease].
A Fish-Eye Disease family has been recently discovered in Bordeaux, being made up 3 homozygous and 3 heterozygous patients for a recessive hereditary anomaly of LCAT. The influence of the enzyme on the plasma lipoprotein composition and its role in cholesterol efflux explain, at least for a part, the pathophysiology of the lipidic corneal clouding which is the single symptom in the homozygous patients. The comparison of the molecular biology data resulting from the analysis of the patient's LCAT gene with those which have been obtained in other FED patients as in patients with classic LCAT deficiency allows to differenciate biochemically both pathologies. It allows too the differentiation between primary and secondary (Tangier disease, apo A-I deficiency, A-I and C-III deficiency) LCAT deficiencies, which may be all associated with a Corneal arcus. The profile of the lipidic parameters most often measured in plasma (Total cholesterol, HDL-cholesterol, cholesterol esterification rate, lipidogramme, apo A-I, apo A-II, LCAT mass and activity) is practically pathognomonic of this affection and consequently authorizes its differential diagnosis. In spite of the striking deficiency of HDL as of their atherogenesis preventing markers these patients do not show any sign of early cardio vascular disease.
Clerc
M
M
Laboratoire de Biochimie Médicale A, Université de Bordeaux II.
Pouliquen
Y
Y
D001112:Arcus Senilis / Q000201:enzymology / Q000235:genetics*; D003318:Corneal Opacity / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008297:Male; D008875:Middle Aged
L'arcus juvenilis et les fonctions de la lécithine: cholestérol acyltransférase. A propos d'un cas familial de "fish-eye-disease".