Amyloidosis is a rare disease that happens when abnormal proteins called amyloid build up in different parts of the body, including the eye and surrounding areas. This buildup can affect the eyelid, the tissues around the eye, and even the inside of the eye itself. Ocular amyloidosis (amyloidosis in the eye) can cause symptoms that range from mild discomfort to serious vision problems.

Early diagnosis is important for managing amyloidosis in the eye. If you have amyloidosis, let your doctor or ophthalmologist (eye specialist) know right away if you notice any changes in your vision or eye health. Your doctor can help determine the cause of your symptoms and find the best treatment plan for you.

How Amyloidosis Can Affect the Eye

Ocular amyloidosis occurs when amyloid protein builds up in the eye. Amyloidosis has been found to affect nearly any structure of the eye, and abnormal protein deposits in the eye can cause various symptoms.

Some people develop localized amyloidosis, meaning the protein buildup only affects the eye. Others have systemic amyloidosis, where amyloid deposits form in multiple organs, including the kidneys and heart. Systemic amyloidosis can increase the risk of kidney damage and heart failure.

Amyloidosis has been found to affect nearly any structure of the eye, and abnormal protein deposits in the eyes can cause various symptoms.

Different types of amyloidosis are more likely to cause different eye-related issues.

Amyloidosis in the Eyelids, Orbit, and Connective Tissues of the Eye

Amyloid proteins can build up in the outer parts of the eye, including the eyelid skin, the orbit (the bones that form the eye socket), and the connective tissues that help the eyes move.

Symptoms can include:

• Lumps under the skin
• Ptosis (a droopy eyelid)
• Diplopia (double vision)
• Constant eye irritation, which may feel like dryness
• Purpura (purple or blue skin) surrounding the eyes, which may appear or worsen when you touch or rub your eyes

These symptoms are most often caused by amyloid light-chain amyloidosis (AL amyloidosis, also known as primary amyloidosis or immunoglobulin light-chain amyloidosis), which is the most common type. However, AA amyloidosis (secondary amyloidosis) can also cause them.

Amyloidosis in the Conjunctiva

The conjunctiva is a thin, moist membrane that lines the inside of the eyelids and covers the white part of the eye. In some cases, amyloid proteins may be deposited in this membrane, leading to conjunctival amyloidosis.

Conjunctival amyloidosis usually appears as a small, yellow, waxy mass on the eye. It can occur in both AL amyloidosis and AA amyloidosis. Some people with conjunctival amyloidosis have other amyloidosis-related symptoms in the body, while others do not.

A specific type of amyloidosis, called hereditary amyloidosis (familial amyloidosis), is strongly linked to amyloidosis in the conjunctiva. Hereditary transthyretin (TTR) amyloidosis (hATTR amyloidosis) happens when the liver makes an abnormal form of the TTR protein, which can lead to amyloid buildup in various organs, including the eyes. Since hATTR amyloidosis runs in families, people with a family history should be aware of potential symptoms.

One small-scale study found that among 37 people with hATTR amyloidosis, 75 percent developed abnormal blood vessels in the conjunctiva. This eye problem can lead to severe vision loss, especially if not identified and treated early.

Amyloidosis in the Cornea

The cornea is the clear, dome-shaped layer over the iris (colored part of the eye). It helps focus light into the eye, allowing you to see clearly. Amyloidosis can affect the cornea in several ways.

Gelatinous Drop-Like Corneal Dystrophy

A hereditary form of amyloidosis can cause gelatinous drop-like corneal dystrophy, a condition where amyloid proteins build up on the cornea. This buildup makes it harder to see and can cause vision problems over time.

Lattice Stromal Dystrophies

Amyloid proteins can also lead to lattice stromal dystrophies, where branching, white lines form inside the cornea. People with this condition may notice white dots and a hazy appearance in the cornea. These dystrophies are caused by specific genetic mutations (changes) linked to amyloidosis.

Keratoconjunctivitis Sicca and Corneal Neuropathy

Hereditary TTR amyloidosis is often associated with corneal neuropathy (loss of corneal sensitivity), which is important for blinking and eye protection. It can also lead to corneal ulcers (open sores on the cornea).

A study found that among a group of people with hATTR amyloidosis, 75 percent developed abnormal blood vessels in the conjunctiva. This eye problem can lead to severe vision loss, especially if not identified and treated early.

Amyloid deposits in the cornea may cause a disease called keratoconjunctivitis sicca (KCS), also known as dry eye disease. KCS can cause severe corneal dryness, which may lead to damage if untreated.

Other Corneal Dystrophies

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 that leads to amyloid buildup in the cornea.

Amyloidosis in the Iris or Lens

When amyloidosis affects the iris or lens, it can lead to glaucoma, a group of eye diseases that damage the optic nerve, which carries signals from the eye to the brain. This damage can cause vision loss. Types of glaucoma linked to amyloidosis include rubeotic glaucoma and particle/particulate glaucoma.

Amyloidosis can also cause a condition called scalloped pupils. In this condition, the border between the iris (the colored part of the eye) and the pupil is uneven, giving the pupil a wavy or scalloped appearance. This happens when amyloid deposits build up around the pupil, pushing it out of shape. In some cases, scalloped pupils can be a sign of systemic (whole-body) amyloidosis.

Hereditary amyloidosis is the most common cause of amyloidosis in the iris or lens. Specifically, familial amyloidosis is strongly linked to chronic open-angle glaucoma, a condition that slowly increases pressure inside the eye, leading to vision loss over time.

Additionally, people with hATTR amyloidosis often develop more cataracts and far-sightednessearlier than usual.

Amyloidosis in the Retina or Vitreous

The vitreous is the gel-like substance that fills much of the inside of the eye. When amyloidosis affects the vitreous, it produces opaque (cloudy) areas in the gel that can look like cobwebs, sheets, or pearls. The severity of vision problems depends on how dense the amyloid deposits are.

The retina is the light-sensitive membrane at the back of the eye that helps the brain process images. Amyloid proteins in the retina can change how the eye detects light. This can lead to discolorations in the retina or distortion of its shape.

Amyloidosis in the retina or the vitreous is usually caused by hereditary amyloidosis. About 20 percent of people with hATTR have hemorrhages and cotton wool spots (fluffy white patches of retinal damage) on eye exams, which are signs of retinal and vitreous disease. Retinal amyloidosis may also occasionally occur in primary amyloidosis that affects the whole body.

Managing Amyloidosis in the Eye

Before starting any treatment for amyloidosis-related eye symptoms, talk to your doctor or ophthalmologist (eye specialist). It’s important to understand what’s causing your eye problems and what treatment options are available. Together, you and your doctor can decide on the best approach. Be sure to follow up regularly after starting treatment to track progress and make any necessary adjustments.

Your doctor will need to know which type of amyloidosis you have and which part of the eye is affected before recommending treatment. In many cases, a surgical procedure may be needed to remove amyloid deposits or manage complications.

The best way to treat amyloidosis in the eye 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 amyloid. Managing amyloidosis may also involve targeted treatments, which can stop mutated genes from producing certain amyloid proteins.

Talk With Others Who Understand

MyAmyloidosisTeam is the social network for people with amyloidosis and their loved ones. More than 2,500 members come together to ask questions, give advice, and share their experiences with others who understand life with amyloidosis.

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