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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
Sources: HPO, OMIM, Orphanet
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).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
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 GTR]

Additional description

From GHR
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.  https://ghr.nlm.nih.gov/condition/fish-eye-disease

Clinical features

Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Reduced transparency of the stroma of cornea.
Hypoalphalipoproteinemia
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Hyperbetalipoproteinemia
MedGen UID:
154289
Concept ID:
C0549399
Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
279403
Concept ID:
C1522137
Laboratory or Test Result
A laboratory test result indicating elevated triglyceride concentration 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.
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Reduced transparency of the stroma of cornea.

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

Calabresi L, Baldassarre D, Castelnuovo S, Conca P, Bocchi L, Candini C, Frigerio B, Amato M, Sirtori CR, Alessandrini P, Arca M, Boscutti G, Cattin L, Gesualdo L, Sampietro T, Vaudo G, Veglia F, Calandra S, Franceschini G
Circulation 2009 Aug 18;120(7):628-35. doi: 10.1161/CIRCULATIONAHA.108.818143. PMID: 19687369
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

Diagnosis

Kapoor S
Ophthalmic Genet 2016 Sep;37(3):349. Epub 2016 Feb 8 doi: 10.3109/13816810.2015.1059461. PMID: 26854387
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. 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. PMID: 22855019
De Smedt M, Van Ginderdeuren R, De Vos R, Mertens A, Muls E, Foets B
Bull Soc Belge Ophtalmol 2001;(282):25-30. PMID: 12455137
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

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. 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. 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. 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
Klein HG, Santamarina-Fojo S, Duverger N, Clerc M, Dumon MF, Albers JJ, Marcovina S, Brewer HB Jr
J Clin Invest 1993 Jul;92(1):479-85. doi: 10.1172/JCI116591. PMID: 8326012Free 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

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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