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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
SNOMED CT: Fish-eye disease (238092004); FED - Fish-eye disease (238092004); Partial LCAT (lecithin-cholesterol acyltransferase) deficiency (238092004); Partial LCAT deficiency (238092004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): LCAT (16q22.1)
 
Monarch Initiative: MONDO:0007620
OMIM®: 136120
Orphanet: ORPHA79292

Definition

Fish eye disease (FED) is a rare familial disorder characterized by severe high-density lipoprotein (HDL) deficiency and massive corneal opacities (summary by Kastelein et al., 1992). [from OMIM]

Additional description

From MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/fish-eye-disease

Clinical features

From HPO
Decreased HDL cholesterol concentration
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Increased LDL cholesterol concentration
MedGen UID:
154289
Concept ID:
C0549399
Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.
Increased VLDL cholesterol concentration
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:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Term Hierarchy

Professional guidelines

PubMed

Freeman LA, Shamburek RD, Sampson ML, Neufeld EB, Sato M, Karathanasis SK, Remaley AT
J Lipid Res 2019 May;60(5):1050-1057. Epub 2019 Feb 26 doi: 10.1194/jlr.D090233. PMID: 30808683Free PMC Article
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF
Prog Cardiovasc Dis 2016 Sep-Oct;59(2):97-106. Epub 2016 Aug 24 doi: 10.1016/j.pcad.2016.08.006. PMID: 27565770Free PMC Article
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632

Recent clinical studies

Etiology

Kuroda M, Bujo H, Yokote K, Murano T, Yamaguchi T, Ogura M, Ikewaki K, Koseki M, Takeuchi Y, Nakatsuka A, Hori M, Matsuki K, Miida T, Yokoyama S, Wada J, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):679-691. Epub 2021 Apr 18 doi: 10.5551/jat.RV17051. PMID: 33867422Free PMC Article
Oldoni F, Baldassarre D, Castelnuovo S, Ossoli A, Amato M, van Capelleveen J, Hovingh GK, De Groot E, Bochem A, Simonelli S, Barbieri S, Veglia F, Franceschini G, Kuivenhoven JA, Holleboom AG, Calabresi L
Circulation 2018 Sep 4;138(10):1000-1007. doi: 10.1161/CIRCULATIONAHA.118.034706. PMID: 29748187
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF
Prog Cardiovasc Dis 2016 Sep-Oct;59(2):97-106. Epub 2016 Aug 24 doi: 10.1016/j.pcad.2016.08.006. PMID: 27565770Free PMC Article
Nair DR, Nair A, Jain A
Curr Pharm Des 2014;20(40):6230-7. doi: 10.2174/1381612820666140620122412. PMID: 24953397
Frohlich J, Westerlund J, Sparks D, Pritchard PH
Clin Invest Med 1990 Aug;13(4):202-10. PMID: 2119926

Diagnosis

Ustaoglu M, Solmaz N, Baser B, Kurtulgan HK, Onder F
Cornea 2019 Mar;38(3):379-383. doi: 10.1097/ICO.0000000000001804. PMID: 30394912
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF
Prog Cardiovasc Dis 2016 Sep-Oct;59(2):97-106. Epub 2016 Aug 24 doi: 10.1016/j.pcad.2016.08.006. PMID: 27565770Free PMC Article
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Kolovou GD, Anagnostopoulou KK, Kostakou PM, Bilianou H, Mikhailidis DP
Curr Drug Targets 2009 Apr;10(4):336-43. doi: 10.2174/138945009787846452. PMID: 19355858
Barchiesi BJ, Eckel RH, Ellis PP
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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. doi: 10.1007/978-1-4684-1262-8_11. 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
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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
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Clinical prediction guides

Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M
J Lipid Res 2022 Mar;63(3):100169. Epub 2022 Jan 20 doi: 10.1016/j.jlr.2022.100169. PMID: 35065092Free PMC Article
Ustaoglu M, Solmaz N, Baser B, Kurtulgan HK, Onder F
Cornea 2019 Mar;38(3):379-383. doi: 10.1097/ICO.0000000000001804. PMID: 30394912
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF
Prog Cardiovasc Dis 2016 Sep-Oct;59(2):97-106. Epub 2016 Aug 24 doi: 10.1016/j.pcad.2016.08.006. PMID: 27565770Free PMC Article
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J
J Lipid Res 1997 Feb;38(2):191-205. PMID: 9162740

Recent systematic reviews

Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M
J Lipid Res 2022 Mar;63(3):100169. Epub 2022 Jan 20 doi: 10.1016/j.jlr.2022.100169. PMID: 35065092Free PMC Article
Mehta R, Elías-López D, Martagón AJ, Pérez-Méndez OA, Sánchez MLO, Segura Y, Tusié MT, Aguilar-Salinas CA
Lipids Health Dis 2021 Jul 13;20(1):70. doi: 10.1186/s12944-021-01498-6. PMID: 34256778Free PMC Article

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