Fish-eye Disease

Description

Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.

Clinical Features

Top most frequent phenotypes and symptoms related to Fish-eye Disease

  • Visual impairment
  • Hepatomegaly
  • Splenomegaly
  • Visual loss
  • Abnormality of the eye
  • Corneal opacity
  • Lymphadenopathy
  • Hypertriglyceridemia
  • Myocardial infarction
  • Opacification of the corneal stroma

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Fish-eye Disease Is also known as dyslipoproteinemic corneal dystrophy, alpha-lcat deficiency, lcata deficiency, partial lcat deficiency, fed, alpha-lecithin:cholesterol acyltransferase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Fish-eye Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Low HDL Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCARB1, LCAT, ABCG1
Specificity
34 %
Genes
100 %
LCAT.

By Institute for Human Genetics University Clinic Freiburg (Germany).

LCAT
Specificity
100 %
Genes
100 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
LCAT. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LCAT
Specificity
100 %
Genes
100 %
LCAT deficiency (sequence analysis of LCAT gene).

By CGC Genetics (Portugal).

LCAT
Specificity
100 %
Genes
100 %
Fish-eye disease.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

LCAT
Specificity
100 %
Genes
100 %
Test for Lecithin Cholesterol Acyltransferase Deficiency.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

LCAT
Specificity
100 %
Genes
100 %
Fish-Eye Disease and Norum Disease via LCAT Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LCAT
Specificity
100 %
Genes
100 %

We have 12 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MANNOSE-BINDING LECTIN DEFICIENCY; MBLD LEBER CONGENITAL AMAUROSIS 11; LCA11 FECHTNER SYNDROME; FTNS BRODY MYOPATHY

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more