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Fish-eye disease(FED)

MedGen UID:
83354
Concept ID:
C0342895
Disease or Syndrome
Synonyms: Alpha-lecithin cholesterol acyltransferase deficiency; Dyslipoproteinemic corneal dystrophy; FED
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Fish-eye disease (238092004); FED - Fish-eye disease (238092004)
 
Gene (location): LCAT (16q22.1)
OMIM®: 136120
Orphanet: ORPHA79292

Definition

Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision. [from GHR]

Clinical features

Disorder of coronary artery
MedGen UID:
365486
Concept ID:
C1956346
Disease or Syndrome
Coronary artery disease (CAD) is the most common type of heart disease. It is the leading cause of death in the United States in both men and women. CAD happens when the arteries that supply blood to heart muscle become hardened and narrowed. This is due to the buildup of cholesterol and other material, called plaque, on their inner walls. This buildup is called atherosclerosis. As it grows, less blood can flow through the arteries. As a result, the heart muscle can't get the blood or oxygen it needs. This can lead to chest pain (angina) or a heart attack. Most heart attacks happen when a blood clot suddenly cuts off the hearts' blood supply, causing permanent heart damage. . Over time, CAD can also weaken the heart muscle and contribute to heart failure and arrhythmias. Heart failure means the heart can't pump blood well to the rest of the body. Arrhythmias are changes in the normal beating rhythm of the heart. . NIH: National Heart, Lung, and Blood Institute.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Finding
Enlargment (swelling) of a lymph node.
Familial hypercholesterolemia
MedGen UID:
5688
Concept ID:
C0020445
Disease or Syndrome
Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992).
High density lipoprotein decreased
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
279403
Concept ID:
C1522137
Laboratory or Test Result
An abnormal increase in the level of triglycerides in the blood.
Increased circulating very-low-density lipoprotein cholesterol
MedGen UID:
867364
Concept ID:
C4021729
Finding
An increase in the amount of very-low-density lipoprotein cholesterol in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFish-eye disease
Follow this link to review classifications for Fish-eye disease in Orphanet.

Recent clinical studies

Etiology

Blanco-Vaca F, Qu SJ, Fiol C, Fan HZ, Pao Q, Marzal-Casacuberta A, Albers JJ, Hurtado I, Gracia V, Pintó X, Martí T, Pownall HJ
Arterioscler Thromb Vasc Biol 1997 Jul;17(7):1382-91. PMID: 9261271
Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH
Arterioscler Thromb Vasc Biol 1996 Feb;16(2):294-303. PMID: 8620346
Rader DJ, Ikewaki K, Duverger N, Schmidt H, Pritchard H, Frohlich J, Clerc M, Dumon MF, Fairwell T, Zech L
J Clin Invest 1994 Jan;93(1):321-30. doi: 10.1172/JCI116962. PMID: 8282802Free PMC Article
Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G
Proc Natl Acad Sci U S A 1991 Jun 1;88(11):4855-9. PMID: 2052566Free PMC Article
Mackness MI, Walker CH, Carlson LA
Clin Chem 1987 Apr;33(4):587-8. PMID: 3030583

Diagnosis

Dimick SM, Sallee B, Asztalos BF, Pritchard PH, Frohlich J, Schaefer EJ
J Clin Lipidol 2014 Mar-Apr;8(2):223-30. Epub 2013 Dec 11 doi: 10.1016/j.jacl.2013.11.005. [Epub ahead of print] PMID: 24636183
Tateno H, Taomoto M, Jo N, Takahashi K, Uemura Y
Jpn J Ophthalmol 2012 Sep;56(5):453-7. Epub 2012 Aug 2 doi: 10.1007/s10384-012-0164-1. [Epub ahead of print] PMID: 22855019
Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH
Arterioscler Thromb Vasc Biol 1996 Feb;16(2):294-303. PMID: 8620346
Frohlich J, Hoag G, McLeod R, Hayden M, Godin DV, Wadsworth LD, Critchley JD, Pritchard PH
Acta Med Scand 1987;221(3):291-8. PMID: 3591467
Carlson LA, Philipson B
Lancet 1979 Nov 3;2(8149):922-4. PMID: 91022

Therapy

Kuroda M, Holleboom AG, Stroes ES, Asada S, Aoyagi Y, Kamata K, Yamashita S, Ishibashi S, Saito Y, Bujo H
Arterioscler Thromb Vasc Biol 2014 Aug;34(8):1756-62. Epub 2014 May 29 doi: 10.1161/ATVBAHA.114.303420. [Epub ahead of print] PMID: 24876348
Dimick SM, Sallee B, Asztalos BF, Pritchard PH, Frohlich J, Schaefer EJ
J Clin Lipidol 2014 Mar-Apr;8(2):223-30. Epub 2013 Dec 11 doi: 10.1016/j.jacl.2013.11.005. [Epub ahead of print] PMID: 24636183
Davignon J, Nestruck AC, Alaupovic P, Bouthillier D
Adv Exp Med Biol 1986;201:111-25. PMID: 3541510

Prognosis

Glukhova A, Hinkovska-Galcheva V, Kelly R, Abe A, Shayman JA, Tesmer JJ
Nat Commun 2015 Mar 2;6:6250. doi: 10.1038/ncomms7250. PMID: 25727495Free PMC Article
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. [Epub ahead of print] PMID: 21540632
Peelman F, Vinaimont N, Verhee A, Vanloo B, Verschelde JL, Labeur C, Seguret-Mace S, Duverger N, Hutchinson G, Vandekerckhove J, Tavernier J, Rosseneu M
Protein Sci 1998 Mar;7(3):587-99. doi: 10.1002/pro.5560070307. PMID: 9541390Free PMC Article
Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G
Proc Natl Acad Sci U S A 1991 Jun 1;88(11):4855-9. PMID: 2052566Free PMC Article
Funke H, von Eckardstein A, Pritchard PH, Karas M, Albers JJ, Assmann G
J Clin Invest 1991 Jan;87(1):371-6. doi: 10.1172/JCI114997. PMID: 1898657Free PMC Article

Clinical prediction guides

Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ
J Clin Invest 1995 Dec;96(6):2783-91. doi: 10.1172/JCI118348. PMID: 8675648Free PMC Article
Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G
Proc Natl Acad Sci U S A 1991 Jun 1;88(11):4855-9. PMID: 2052566Free PMC Article
Godin DV, Garnett ME, Hoag G, Wadsworth LD, Frohlich J
Eur J Haematol 1988 Aug;41(2):176-81. PMID: 3410011
Holmquist L, Carlson LA
Acta Med Scand 1987;221(3):283-9. PMID: 3591466
Turner PR, Carlson LA, Cortese C, Rao S, Marenah CB, Miller NE, Lewis B
Eur J Clin Invest 1984 Aug;14(4):273-7. PMID: 6434321

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