Lecithin-cholesterol acyltransferase is the name of an enzyme the body produces to help remove cholesterol from the body. Everyone needs some cholesterol to stay healthy but too much cholesterol is bad. Lecithin-cholesterol acyltransferasedeficiency or LCAT deficiency is an extremely rare genetic disease which comes in two types – familiar LCAT deficiency or FLT and fish-eye disease or FED.
As the common name suggests, the eyes are primarily affected and the condition could lead to blindness as a result. Patients with fish-eye disease may not start symptoms until their late teens or early adult years. Their parents will not show any symptoms but they both will carry the defective gene pair that causes the symptoms. This disease is so rare that there are thought to be only 125 people in the world to have it. Since it is so rare, not much is known about it.
Symptoms begin as the patient begins seeing small gray dots. These dots are actually clots of cholesterol on the cornea. The grey spots become more predominant until it looks like there are grey clouds in the patient’s eyes. The grey coloring reminded some doctors of boiled fish and so that is how the common name developed. The patient then gradually loses the ability to see and can eventually go blind .
There is no cure for fish-eye disease. Since it’s so rare there is also no specific medication or treatment plan for fish-eye disease. However, becoming blind is not inevitable.
One surgical procedure that may help is corneal transplants, where the old cloudy cholesterol-covered corneas are removed and new ones from a recently deceased organ donor are put in place. It is unknown how permanent a solution is to fish-eye disease.
People with fish-eye disease and their parents need to be aware that they can pass this disease on to the next generation. Parents may need to discus with their doctors the risks of having more children. Patients should receive genetic counseling and genetic tests to make sure they carry the defective gene before they have children. Children of patients that have been born after symptoms developed should also receive gene tests.