National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Fish-eye disease


Other Names:
FED; Dyslipoproteinemic corneal dystrophy; Alpha-lecithin cholesterol acyltransferase deficiency; FED; Dyslipoproteinemic corneal dystrophy; Alpha-lecithin cholesterol acyltransferase deficiency; ALPHA-LCAT deficiency; LCATA deficiency; Partial LCAT deficiency See More
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Fish-eye disease is a rare condition that affects the eyes. People with this condition generally develop corneal clouding beginning in adolescence or early adulthood. Overtime, the condition gradually worsens and can lead to significant vision loss. Fish-eye disease is caused by changes (mutations) in the LCAT gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. In severe cases, corneal transplantation may be recommended.[1][2][3]
Last updated: 6/21/2017
The signs and symptoms of fish-eye disease generally begin in adolescence or early adulthood and affect the clear front surface of the eye (also called the cornea). In people with this condition, the cornea gradually becomes cloudy. This condition often worsens overtime which can lead to significant visual impairment. Some affected people may also have signs of atherosclerosis, a condition in which plaque builds up inside the arteries.[1][2][3]
Last updated: 6/20/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Corneal opacity 0007957
Decreased HDL cholesterol concentration
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ] 		0003233
5%-29% of people have these symptoms
Angina pectoris 0001681
Atherosclerosis
Narrowing and hardening of arteries
0002621
Hepatomegaly
Enlarged liver
0002240
Lymphadenopathy
Swollen lymph nodes
0002716
Splenomegaly
Increased spleen size
0001744
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] 		0002155
Increased LDL cholesterol concentration
Increased circulating LDL level
Increased LDL cholesterol
[ more ] 		0003141
Increased VLDL cholesterol concentration 0003362
Opacification of the corneal stroma 0007759
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Last updated: 7/1/2020
Fish-eye disease is caused by changes (mutations) in the LCAT gene. This gene encodes an enzyme that helps remove cholesterol from the blood and certain tissues. It carries out this role by helping cholesterol attach to lipoproteins, which carry it to the liver for redistribution to certain tissues or for removal. Fish-eye disease occurs when mutations impair the enzyme's ability to attach cholesterol to a lipoprotein called high-density lipoprotein (HDL), specifically. As a result, cholesterol begins to cloud the cornea. It is unclear why cholesterol deposits almost exclusively affect the cornea in this condition.[4][3]

Of note, mutations that affect the enzyme's ability to attach cholesterol to HDL, low-density lipoprotein, and very low-density lipoprotein lead to a related disorder called complete LCAT deficiency, which involves corneal opacities in combination with features affecting other parts of the body.[4]
Last updated: 6/20/2017
Fish-eye disease is inherited in an autosomal recessive manner.[4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
Last updated: 6/20/2017
A diagnosis of fish-eye disease is first suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that can be associated with similar features. This testing may include:[3][1]
  • Genetic testing to identify two mutations in the LCAT gene.
  • Testing that analyzes the function of the enzyme encoded by the LCAT gene.
  • Specialized urine and blood tests.
Last updated: 6/21/2017

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatments are available to help manage the signs and symptoms of fish-eye disease. Affected people will generally be followed by an ophthalmologist to monitor and treat worsening visual impairment. In severe cases, corneal transplantation may be recommended.[3][1] Researchers are currently studying other potential therapies. For example, one recent study suggested that statins (cholesterol-reducing medications) could be prescribed in people affected by fish-eye disease to reduce the risk of atherosclerosis.[2]
Last updated: 6/21/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Schnyder corneal dystrophy as well as familial LCAT deficiency and Tangier disease (see these terms).
Visit the Orphanet disease page for more information.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference contains information on Fish-eye disease. This website is maintained by the National Library of Medicine.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fish-eye disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Catherine Anastasopoulou, MD, PhD, FACE. Lecithin-Cholesterol Acyltransferase Deficiency. Medscape Reference. August 2016; http://emedicine.medscape.com/article/122958-overview.
  2. Dimick SM, Sallee B, Asztalos BF, Pritchard PH, Frohlich J, Schaefer EJ. A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy. J Clin Lipidol. March-April 2014; 8(2):223-230.
  3. Fish-eye disease. Orphanet. March 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292.
  4. fish-eye disease. Genetics Home Reference. August 2013; https://ghr.nlm.nih.gov/condition/fish-eye-disease#.