Corneal dystrophies

Abnormal material builds up in the cornea affecting the clarity (transparency) of your cornea. Corneal dystrophies usually involve both eyes.

Although corneal dystrophies often get worse over time, this usually happens very slowly. Many corneal dystrophies develop so slowly that they may never affect your vision.

Corneal dystrophies may not cause any symptoms. However, symptoms may include:

• glare
• pain or discomfort
• light sensitivity
• dry eye
• sometimes a reduced level of vision

This page contains a summary of our information on corneal dystrophies. To read our full information, download our factsheet:

Corneal dystrophies often run in families, but this is not always the case. Sometimes, it may not be possible to say why someone has developed their corneal dystrophy.

Corneal dystrophies can be passed on (inherited) through your genes. Genes usually come in pairs. You inherit one gene from each of your parents to make each pair. When you have children, you only pass on one gene to them. There are two ways that corneal dystrophies can be inherited:

• Autosomal Dominant inheritance. This means that one parent has the condition. Each time that parent has a child there is a one in two chance of the child having the condition as well.
• Autosomal Recessive inheritance. This means that if neither parent has the condition themself, and both parents are “carriers”. If two carriers have children, there is a one in four chance that each child will have the condition. Both parents need to be carriers of the condition for their child to be affected.

The cornea is made up of five main layers. Each layer has a different role in keeping the cornea healthy and transparent. There are many different types of corneal dystrophies. Each dystrophy will start by affecting a particular layer of the cornea, so they are often classified by layers of the cornea they affect.

The layers of the cornea from the outer part of the eye inwards, or front to back, are the epithelium, Bowman’s layer, the stroma, Descemet’s membrane, and the endothelium.

The epithelium is the thin outermost layer of the cornea. It is a barrier protecting the rest of the cornea and the inside of the eye from foreign bodies, such as grit, and from infections. The epithelium is filled with tiny nerve endings that make the cornea very sensitive to touch. The epithelium also provides an extremely smooth surface, which is essential for good vision.

A common symptom of corneal dystrophies that affect the epithelium is a painful “foreign body” sensation. This can feel like there is something in your eye. It can occur if there is a change in the cornea which disturbs the epithelium.

If the surface epithelial layer breaks down, the sensitive nerve endings become exposed, causing a foreign body sensation. This breakdown of the corneal surface is known as an “erosion” and causes a similar feeling to when an eyelash or a piece of grit gets into the eye, but in some cases can be a lot more painful.

The epithelium can heal quickly so you may not experience these symptoms for very long. Treatment can also be given to relieve your symptoms and aid healing.

Epithelial basement membrane dystrophy (also known as map dot fingerprint dystrophy or Cogan’s dystrophy)

Epithelial basement membrane dystrophy is the most common epithelial dystrophy. It doesn't usually run in families. However, very rarely, it is passed on in a family by dominant inheritance.

Most people have no symptoms but about one in 10 people who have this dystrophy go on to develop recurrent corneal erosions. Recurrent corneal erosions can cause pain, light sensitivity, blurred vision, redness and watering. You may find it difficult to open the affected eye. Corneal erosion pain may start suddenly, often when you first wake in the morning and get better later in the day. Most people who have these symptoms are over 30 years of age.

Erosions occur because this dystrophy changes the “basement” or anchoring layer of the epithelium, which can cause small areas of the epithelium of the cornea to become detached. When an optometrist (optician) or ophthalmologist (hospital eye doctor) examines your cornea these erosions can look like areas of land on a map, dots or fingerprints. This is why this dystrophy is also known as map dot fingerprint dystrophy.

Although corneal erosions can be painful, they normally heal very quickly. Sometimes within hours of the erosion happening. If you have corneal erosion, then you will usually have treatment to relieve pain and allow the cornea to heal.

The treatment you will be given will depend on how bad the erosion is and whether you have had many erosions before. If you need treatment, you may be given:

• Eye drops to dilate (enlarge) your pupil. These drops will blur your vision but help to reduce pain by paralysing the iris and ciliary body muscles. This keeps the movement of these muscles inside of the eye to a minimum while your cornea heals.
• Antibiotic eye drops may be given during acute flare-ups, to help prevent infection.
• Lubricating eye drops, gels, or ointments are given to make your eyes feel more comfortable. They can also prevent the inside of your eyelids sticking to or damaging the epithelium.

Corneal erosions can flare up from time to time and settle again without causing any long-term problems with your sight. If you have very frequent severe erosions, other treatments may be needed to allow your cornea to heal, which may include:

• Specialised 'bandaging' contact lenses. These can be worn long term to keep the eye comfortable
• 'Debridement', where loose tissue is removed from the surface of your cornea. Debridement can be carried out manually, using blunt instruments or be automated, using lasers (excimer) to remove damaged tissue. Debridement can provide improvement in clarity of vision as well as comfort of the eye in some people.

Most people with this type of corneal dystrophy do not have sight problems. Everyday activities such as driving, or reading are not typically affected in the long term. It is very rare for someone with an epithelial basement membrane dystrophy to need a corneal transplant.

Meesman’s dystrophy

Meesman’s dystrophy is a very rare corneal dystrophy and is passed on in a family by dominant inheritance. Meesman’s dystrophy usually affects both eyes. This condition causes tiny round pockets of fluid, known as microcysts to form in the epithelial layer of your cornea. These develop early in life, sometimes within the first year. The microcysts can increase in number over time.

The microcysts do not normally cause any symptoms until late adolescence or adulthood. At this stage the microcysts can start to break open (rupture) on the surface of the cornea. This can cause discomfort. These changes may make you light sensitive, cause your eyes to water and feel like you have something in your eye. Some people may experience temporary episodes of blurred vision. You may also find it difficult to wear contact lenses.

Meesman’s dystrophy is usually treated with eye drops to lubricate the front of the eye. The lubricating drops help reduce symptoms and make your eyes more comfortable. Although people can have temporary flare-ups when microcysts rupture, Meesman’s dystrophy does not worsen over time. Other treatments are not normally required.

The stroma is the middle layer of the cornea. It makes up around 90 per cent of your cornea’s thickness. The stroma is made up of water and a material called collagen, which is arranged in regular fibres. This regular arrangement of collagen fibres means that the stroma is clear and very tough and elastic.

Stromal dystrophies cause deposits to build up in this layer. These deposits make your stroma less clear, affecting vision. Changes in your stroma can also affect other layers of your cornea causing corneal erosions to develop.

Reis-Bücklers dystrophy

Reis-Bücklers dystrophy is a very rare condition that often starts in childhood around the age of four or five or in early adulthood. It affects both eyes equally and is thought to have a dominant pattern of inheritance.

Reis-Bücklers dystrophy affects Bowman's layer of the cornea. Bowman's layer is the top layer of the stroma, separating it from the epithelium. In this dystrophy, the tissue that makes up the Bowman's layer and the basement layer of the epithelium changes. This causes irregularly shaped opacities in the stroma and painful erosions to develop.

Over time, although the erosions may settle down, the surface of the cornea can become hazier, affecting sight.

Reis-Bücklers dystrophy tends to cause changes to the middle of the cornea, so they are more likely to affect your vision. It can also cause a loss of sensation (feeling) to the surface of your cornea. This could mean you may not be aware if something goes in your eye, or if your cornea has been damaged. This could lead to further damage.

Treatments for Reis-Bücklers corneal dystrophy can include removing scar tissue from the surface of your cornea. This is known as epithelial debridement. The cloudy area of the cornea can also be removed by laser eye surgery.

If Reis-Bucklers dystrophy causes very poor vision, a corneal transplant may be needed.

Lattice dystrophy

Lattice dystrophy is the most common stromal dystrophy. It is passed on in a family by dominant inheritance. It usually begins before the age of 20 years. Early symptoms tend to be a 'foreign body' sensation, which can feel like there is something in your eye. There may also be a slight change in vision. Some people may experience painful corneal erosions, but others have no symptoms.

Lattice dystrophy causes material to build up on the cornea in a lattice (grid) pattern. When your eye is examined under a microscope, called a slit lamp, very fine glassy-looking overlapping lines and dots can be seen in your cornea. The appearance looks like 'cracked glass'. As the dystrophy progresses, these lines become thicker and may make the cornea hazy affecting your sight.

Treatment for a 'foreign body' sensation and erosions might include lubricating eye drops and/or antibiotic eye drops. If you experience serious sight loss, laser treatment or corneal transplant might be required.

Granular dystrophy

Granular dystrophy affects both eyes and is passed on in a family by dominant inheritance. It usually begins before the age of 20. In the early stages, vision isn’t affected but when your eyes are examined using a slit lamp, small white deposits can be seen in your cornea. These look like crumbs, sugar granules, rings or snowflakes.

These deposits increase in number slowly over time. They join together, becoming larger and noticeable without a slit lamp.

Vision is not usually severely affected under the age of 50. As granular dystrophy worsens, you may experience frequent painful recurrent erosions, glare and light sensitivity because of the increase in deposits.

If you develop erosions and your eyes are painful or uncomfortable, lubricating eye drops can be given to help soothe your eyes and allow the cornea to heal.

If the erosions are frequent and not helped with drops, you may need laser treatment to remove some of the deposits and smooth the surface of the cornea. Your cornea may also become less sensitive to touch and pain due to granular dystrophy. You may not be aware that you are developing erosions or that your cornea is damaged.

Painful recurrent erosions can increase the haziness of the stroma. This can lead to further reduced vision. If you experience serious sight loss due to granular dystrophy, a corneal transplant may be required.

Macular corneal dystrophy

Macular corneal dystrophy is passed on in a family by recessive inheritance. This makes it less common than other stromal dystrophies. But it tends to be more severe.

Macular corneal dystrophy causes dense greyish-white deposits to form in the stroma. With time more and more of these deposits develop. Eventually, the whole stroma becomes cloudy and vision is reduced.

These changes also cause the cornea to become thinner and irregular in shape. Macular corneal dystrophy can also make someone sensitive to light and cause painful erosions to develop.

Often this dystrophy causes severe sight loss between the ages of 20 to 40. You may need a corneal transplant.

The endothelium is an extremely thin single layer of cells, which makes up the innermost layer of your cornea. This layer is vital for keeping the cornea clear. The endothelium acts as a pump controlling the movement of fluids and nutrients in and out of your cornea.

Without this pump, the cornea can swell with fluid and become hazy. The endothelium cannot repair itself, so conditions that affect the endothelium can cause swelling of the cornea that can lead to serious sight loss.

Fuchs endothelial dystrophy

Fuchs corneal endothelial dystrophy is passed on in a family by dominant inheritance. Most of the time, it is sporadic, meaning there is no family history of the condition. It is normally detected when someone is in their 50s or 60s. As a normal part of getting older, a small number of endothelial cells are lost. This does not normally cause any changes in vision. In Fuchs dystrophy, this process speeds up and more cells than usual are lost.

Eventually, the endothelium stops working properly, and fluid builds up in the cornea leading to increased corneal thickness and swelling (oedema). Your vision then becomes cloudy and blurred. For many people with FECD, the condition progresses slowly, and they don’t develop any problems with their vision.

Fortunately, Fuchs dystrophy develops slowly. Not everyone who is diagnosed with Fuchs dystrophy experiences problems with their vision.

If the changes to your sight are starting to cause you difficulties, your ophthalmologist may recommend that you have a corneal transplant.

It's completely natural to be upset when you have been diagnosed with a corneal dystrophy and normal to find yourself worrying about the future and how you will manage with a change in your vision. We’re here to support you every step of the way, and to answer any questions you may have – just get in touch with our Sight Loss Advice Service.