Amyloidosis is a rare disease that occurs when a substance called amyloid builds up in your organs. This condition can sometimes affect the eyes, the areas around the eyes, the eyelids, and even the inside of the eye. Amyloidosis in the eyes can result in symptoms ranging from slight discomfort to serious vision problems.
Early diagnosis is key to successfully treating amyloidosis in the eye (ocular amyloidosis). If you have amyloidosis, it’s important to alert your health care team or ophthalmologist as soon as you notice any changes in your eyes or vision. The doctor can help diagnose the cause of your symptoms and work with you to determine the best course of treatment.
Ocular amyloidosis occurs when amyloid proteins that build up in the body begin accumulating in the eyes. Amyloidosis has been found to affect nearly any structure of the eye, and abnormal protein deposits in the eyes can cause various symptoms.
Some people may only have symptoms around their eyes (localized amyloidosis), and others may have these symptoms in addition to others throughout the body (systemic amyloidosis). Systemic amyloidosis can commonly affect the renal system, causing kidney disease. It can also affect the heart, causing a risk of heart failure.
Amyloid proteins can build up in the outer structures of the eye, including the eyelid skin, the orbit (the bone structure the eye is encased in), and the connective tissues that help the eyes move.
Symptoms can include:
These symptoms are most often caused by primary amyloidosis — also known as amyloid light-chain (or AL) amyloidosis or immunoglobulin light chain amyloidosis. However, the symptoms can also be caused by secondary amyloidosis, also called amyloid A (AA) amyloidosis).
The conjunctiva is the mucous membrane that runs along the insides of the eyelids. It also covers the white part of the eye. In some cases, extra amyloid proteins may be deposited in this mucous membrane.
Amyloidosis in the conjunctiva (conjunctival amyloidosis) usually looks like a small, yellow, waxy mass (lesion) somewhere along the membrane of the eye. Conjunctival amyloidosis can occur with either primary or secondary amyloidosis and may or may not occur with other symptoms of amyloidosis throughout the body.
The cornea is the clear, dome-shaped layer over the colored part of the eye (the iris). The cornea works to focus light into the eye so you can perceive your surroundings accurately. There are several ways that amyloidosis can affect the cornea.
Amyloidosis may cause gelatinous drop-like corneal dystrophy. This condition is caused by a hereditary form of amyloidosis. It occurs when amyloid proteins build up on the cornea, making it difficult to see.
Amyloidosis can also cause lattice stromal dystrophies, which occur when amyloid proteins form patterns of branching lines inside the cornea. People who are affected may notice white dots on the cornea, as well as a haziness throughout the cornea. These dystrophies are caused by specific genetic forms of amyloidosis.
Several other corneal dystrophies are caused by amyloidosis, including gelsolin type 2 and granular corneal dystrophy type 2. Each of these conditions is caused by a different genetic mutation.
When amyloidosis affects the iris or the lens of the eye, the condition can cause one of several types of glaucoma (conditions that damage the eyes’ optic nerves). These include rubeotic glaucoma or particulate glaucoma.
Amyloidosis can also cause a condition called scalloped pupils. If you look closely at the eyes of someone with this diagnosis, you will notice that the border between the pupil and the iris is not smooth. It will appear to have scalloping around the edges. This sign occurs when amyloid deposits form around the edges of the pupil, pressuring it into a different shape.
Amyloidosis in the iris or the lens of the eye is usually caused by hereditary amyloidosis. This condition is also called familial amyloidosis. This type of amyloidosis occurs when the liver secretes TTR (an abnormal protein). As the name suggests, familial amyloidosis tends to run in families — if you develop one of these conditions, you will likely have a family history.
In some cases, scalloped pupils may also occur when primary amyloidosis affects the whole body.
The vitreous is the gel that fills in much of the inside of the eyeball. When amyloidosis affects the vitreous, it produces opaque areas in the gel that can look like cobwebs, sheets, or pearls. The density of the amyloid deposits will determine how the deposit affects a person’s vision.
The retina is the area at the back of the eye that is sensitive to light. Amyloid proteins deposited in the retina will affect how the eye processes light. The proteins can cause discolorations in the retina or distort its shape.
Amyloidosis in the retina or the vitreous is usually caused by hereditary amyloidosis, although it may occasionally occur in primary amyloidosis that affects the whole body.
Talk to your doctor before you take any steps toward treating or managing amyloidosis symptoms that affect your eyes. Make sure you understand what is causing your eye problems and discuss your options. Then, you and your doctor can choose the best course of treatment. Be sure to follow up with your doctor after starting treatment so you can make any changes, if necessary.
When treating amyloidosis in the eyes, your doctor will need to know what type of amyloidosis you have and what part of the eye it is affecting. Some management techniques are as simple as using lubricating eye drops and bandage contact lenses. Other care plans can involve surgical intervention.
The best way to treat amyloidosis in the eyes may be to treat the overall amyloidosis. Treatments for amyloidosis may involve using chemotherapy to stop abnormal cells from growing in the body and producing amyloids. Therapy may also involve targeted treatments, which can stop mutated genes from producing certain amyloid proteins. Depending on the type of amyloidosis, you may have additional treatment options, such as bone marrow transplantation.
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