Fish-Eye Disease

Common Name(s)

Fish-Eye Disease

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fish-Eye Disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fish-Eye Disease" returned 11 free, full-text research articles on human participants. First 3 results:

Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease.
 

Author(s): B Vanloo, F Peelman, K Deschuymere, J Taveirne, A Verhee, C Gouyette, C Labeur, J Vandekerckhove, J Tavernier, M Rosseneu

Journal: J. Lipid Res.. 2000 May;41(5):752-61.

 

In order to test the hypothesis that fish-eye disease (FED) is due to a deficient activation of lecithin:cholesterol acyltransferase (LCAT) by its co-factor apolipoprotein (apo) A-I, we overexpressed the natural mutants T123I, N131D, N391S, and other engineered mutants in Cos-1 cells. ...

Last Updated: 24 Jul 2000

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A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression.
 

Author(s): A F Winder, J S Owen, P H Pritchard, D Lloyd-Jones, D T Vallance, P White, R Wray

Journal: J. Clin. Pathol.. 1999 Mar;52(3):228-30.

 

Fish-eye disease is a familial syndrome with corneal opacification, major high density lipoprotein (HDL) deficiency in plasma, significant cholesterol esterification in plasma on non-HDL lipoproteins, generally without premature coronary disease. This first British male case from ...

Last Updated: 26 Aug 1999

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Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea.
 

Author(s): F Blanco-Vaca, S J Qu, C Fiol, H Z Fan, Q Pao, A Marzal-Casacuberta, J J Albers, I Hurtado, V Gracia, X Pintó, T Martí, H J Pownall

Journal: Arterioscler. Thromb. Vasc. Biol.. 1997 Jul;17(7):1382-91.

 

The genetic and biochemical basis of fish-eye disease (FED) was investigated in a 63-year-old female proband with low plasma HDL cholesterol. Analyses of corneal and plasma lipids of the proband were consistent with impaired lecithin:cholesterol acyltransferase (LCAT) activity. Free ...

Last Updated: 4 Sep 1997

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fish-Eye Disease" returned 1 free, full-text review articles on human participants. First 3 results:

Two novel molecular defects in the LCAT gene are associated with fish eye disease.
 

Author(s): J A Kuivenhoven, A F Stalenhoef, J S Hill, P N Demacker, A Errami, J J Kastelein, P H Pritchard

Journal: Arterioscler. Thromb. Vasc. Biol.. 1996 Feb;16(2):294-303.

 

A 53-year-old man with a severely reduced HDL cholesterol level, dense corneal opacities, normal renal function, and premature coronary artery disease was investigated together with 16 members of his family. The proband was diagnosed with fish eye disease. As in previously reported ...

Last Updated: 18 Jun 1996

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.