Fish-Eye Disease: A rare genetic condition you might not have heard of

Fish-eye disease is also referred to as partial LCAT deficiency, and it causes the clear cornea of the eye to become cloudy over time, reducing visual acuity.

The cloudiness that occurs in the eyes of those with fish-eye disease will typically appear for the first time during adolescence or in the early part of adulthood. You will note small dots that are referred to as opacities on the eyes. These are grayish colored spots of cholesterol, and they are distributed across the surface of the corneas.

As this condition progresses, the cloudiness within the corneas will get worse, and that could severely impair the patient's vision.

A Genetic and Rare Condition

Fish-eye disease is actually a genetic condition that is the result of mutations within the LCAT gene. This gene is responsible for giving instructions for the production of the enzyme known as lecithin-cholesterol acyltransferase (LCAT).

LCAT is responsible for getting rid of cholesterol within tissues and blood in the body. When gene mutations are involved, however, the LCAT activity is impaired and the enzyme doesn't have the same ability to attach HDL to cholesterol. This eventually results in the opacities on the cornea, which contain cholesterol.

Diagnosing Fish-Eye Disease

This disease is rare, and only about 30 cases have actually been reported thus far in medical literature.

A doctor will initially diagnose this condition simply based upon the cloudiness of the cornea. However, to make a definitive diagnosis, your doctor will have to perform molecular genetic tests on the LCAT gene.

Treatment Options for LCAT Deficiency

As of yet, there aren't any specific therapies available that can treat LCAT deficiency. Therefore, a doctor can prescribe symptomatic treatments for patients who are suffering with renal insufficiency, atherosclerosis, and anemia.

You should consult with a doctor who has experience in treating fish-eye disease, as he or she will be able to closely monitor your visual acuity and also look for papilledema, which is a swelling of the optic disc that is the result of an increased amount of intracranial pressure.

When the corneal opacity associated with fish-eye disease becomes severe to the point that vision is greatly reduced, corneal transplantation is a treatment option. Remember, the biggest complication that can result from fish-eye disease is serious loss of vision, so talking to your doctor and monitoring your condition closely will be imperative and lead you to the best treatment options for preserving the vision as much as possible.

In addition to tackling the fish-eye disease symptoms, however, you can also try to focus on the underlying cause, which is the LCAT deficiency. You can, for example, restrict your intake of fat, as well as exercise under your doctor's guidance in an effort to prevent atherosclerosis.

Fish-eye disease is a rare disorder that many people are not aware of; therefore, pharmacologic therapies haven't been studied in any systemic way. If you or someone you love is noticing opacities within the corneas of the eyes, seeing a doctor will lead to the correct diagnosis and treatments.