A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features.
Fish-eye disease (FED) is a rare familial condition characterized by progressive bilateral corneal clouding and dyslipoproteinemia previously described in one family and an unrelated woman of Swedish descent. Biochemical studies have clearly demonstrated the existence of this entity as a unique dyslipoproteinemia. We present a non-Swedish family of Mediterranean ancestry afflicted with bilateral corneal clouding and lipoprotein analysis consistent with FED-like state. This family's biochemical profile, corneal button histology, and electron microscopy of one member are reviewed. Other dyslipoproteinemias causing corneal changes are considered. Corneal tissue and familial biochemical analyses differed significantly from previous descriptions. On the basis of these findings, explanation of pathologic deposition and disease mechanism is proposed.
Koster
H
H
Department of Ophthalmology, Hôtel-Dieu, Paris, France.
Savoldelli
M
M
Dumon
M F
MF
Dubourg
L
L
Clerc
M
M
Pouliquen
Y
Y
D000293:Adolescent; D001053:Apolipoproteins / Q000097:blood; D002648:Child; D008076:Cholesterol, HDL / Q000097:blood; D003316:Corneal Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003318:Corneal Opacity / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007009:Hypolipoproteinemias / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D015948:Keratoplasty, Penetrating; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000097:blood; D008077:Lipoproteins, LDL / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D001053:Apolipoproteins; D008076:Cholesterol, HDL; D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL