title: [Corneal opacity as the leading symptom of hereditary lecithin-cholesterol acyltransferase (LCAT) deficiency. Case report and a review of the literature].
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.
mesh_terms: D000328:Adult; D003318:Corneal Opacity / Q000235:genetics* / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
vernacular_title: Hornhauttrübung als Leitsymptom des hereditären Lecithin-Cholesterin-Acyltransferase-(LCAT-) Mangels.