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Disease Profile

Fish-eye disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

E78.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

FED; Dyslipoproteinemic corneal dystrophy; Alpha-lecithin cholesterol acyltransferase deficiency;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;

Summary

Fisheye 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]

Symptoms

The signs and symptoms of fisheye 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]

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.

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

Cause

Fisheye 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]

Diagnosis

A diagnosis of fisheye 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.

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.

Treatment

Treatments are available to help manage the signs and symptoms of fisheye 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]

Learn more

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.

References

  1. Catherine Anastasopoulou, MD, PhD, FACE. Lecithin-Cholesterol Acyltransferase Deficiency. Medscape Reference. August 2016; https://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; https://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#.

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