Adamtsl4-related eye disorders

Siblings of a person with an ADAMTSL4-related eye disorder should see an eye doctor to get checked for the same disorder. This can either be done by a complete eye examination or by genetic testing. The person already known to have the disorder should have genetic testing first to find the exact changes in ADAMTSL4 causing their symptoms. Then, other family members can be tested for the same changes.

To our knowledge, there is no database or registry of people with ADAMTSL4-related eye disorders at this point. You may have to ask your doctor if they know of anyone with the same disorder, and your doctor could get their permission to be contacted by you. You can also look for general support groups for people who are affected with low vision. These support groups vary from state to state, but you eye doctor may be aware of some in your area. The Glaucoma Research Foundation also offers information and support for individuals experiencing glaucoma. Also, Family Connect is a support group for families affected by vision impairment.

Symptoms of ADAMTSL4-related eye disorders usually appear in early childhood. Sometimes, displacement of the lens be present when a baby is born and the disorder can be diagnosed then. Some very mild cases of these disorders may not be noticed until adulthood.

If you have an ADAMTSL4-related eye disorder, you should see an ophthalmologist regularly. An ophthalmologist is a medical doctor who specializes in taking care of patients’ eyes. You might already have an optometrist, who is another health care professional who takes cares of eyes and prescribes glasses. Your optometrist may be able to diagnose your disorder, but he or she should refer you to see an ophthalmologist to continue your care. If you are experiencing vision loss, you could also consider an appointment with a low vision specialist who could help you better use the remaining vision that you have.

There is no usual abbreviation for ADAMTSL4-related eye disorders. One of the conditions in this group, autosomal recessive isolated ectopia lentis, can be abbreviated to ECTOL2.

Ectopia lentis et pupillae is one of the disorders caused by changes in the ADAMTSL4 gene. We each typically have 2 copies of this gene in our body, one from our mom and one from our dad. In order to have this disorder, both copies of the ADAMTSL4 gene need to have a change in them that makes them work less or not at all. This is called "autosomal recessive inheritance". "Ectopia lentis" means that the lens of the eye slips out of its usual place in this condition. "Et pupillae" means that the pupil of the eye, the black hole in the middle of your eye, is also out of place.
Ectopia lentis et pupillae usually affects both of a person’s eyes. There can be other symptoms in the eye that affect parts other than the lens and the pupil. However, no other body parts show any symptoms. This disorder can cause blurry vision and difficulty focusing, since the lens is out of place. There is also a risk for glaucoma (increased pressure in the eye), early cataracts (when the normally clear lens gets cloudy), and retinal detachment (when the part of the eye that sends signals to the brain slips out of place).

Autosomal recessive isolated ectopia lentis-2, also known as ECTOL2, is one of the disorders caused by changes in the ADAMTSL4 gene. "Autosomal recessive" means that this disorder is caused by having changes in both copies of a person’s ADAMTSL4 gene. We each typically have 2 copies of this gene, one from our mother and one from our father. "Isolated" means that the ectopia lentis, or slipping of the lens of the eye out of place, is happening alone. There are no other body parts that show symptoms of this condition.
In ECTOL2, the lens of the eye slips out of its usual place. This makes it harder for a person to see. They may have trouble focusing on things and have blurry vision. The eye is the only body part affected by ECTOL2.

Normally, the ADAMTSL4 gene gives the instructions to the body to make a protein that helps to keep the parts of the eye in the right places. It helps form the body’s connective tissue, like ligaments, that hold parts of the body in place. When a person has changes in both of their copies of this gene, like in an
ADAMTSL4-related eye disorder, the protein cannot be made correctly or not at all . This means the connective tissue does not work as well as it should, especially in the eye, which causes the symptoms seen in these disorders.

Changes in the ADAMTSL4 gene cause the ADAMTSL4-related eye disorders. These changes within the gene are usually small differences in the way the gene is spelled, called "sequence variants."

Everyone has differences in their genes which are the instructions that tell our bodies how to function properly. That’s what makes us all different! A "variant" is a genetic difference that has never been seen before or is not understood very well. You can think of it like a misspelling in a word. If you have inherited a "variant" in ADAMTSL4, it means that there is a difference in how your ADAMTSL4 gene is "spelled", but that we don’t yet know if this difference makes the gene work less or if it is just the way your ADAMTSL4 gene is normally spelled.
Since the ADAMTSL4-related eye disorders are caused by spelling changes in both of a person’s ADAMTSL4 genes, it is possible to see someone who has one variant and one known mutation, or even someone with 2 variants. If this person is having symptoms of an ADAMTSL4-realted eye disorder, it makes it more likely that the variants are spelling differences that make the gene work less. If they are not having symptoms, it makes it more likely that this is just a normal spelling difference.

The symptoms of ADAMTSL4-related eye disorders all occur in the eye. In order to understand how these disorders affect the eye, it is important to understand the structure of the eye. The eye is like a camera-the image seen is focused through the lens at the front of eye on the retina at the back of the eye. The retina acts like the film in the camera which captures the image that is seen and sends that image to the brain.

In the group of conditions, the two most common types of eye diseases are call "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae." Ectopia lentis means that the eye lens is not in the correct position or as it is commonly called "dislocated" or sometimes "subluxed." The lens slips out of its normal place in the eye. If the lens is not in the correct place, it makes it hard for the person to focus on objects and makes their vision blurry. In ectopia lentis et pupillae, not only is the lens out of its normal location, but the pupil is also mislocated. The pupil is the black part of the center of the eye which is responsible for letting light into the eye. It is off center in patient with these conditions.

Patients with ADAMTSL4-related eye conditions may be affected with cataracts. Cataracts are a cloudiness of the normally clear lens. Cataracts are common in the general population when people get older, but in patients with ADAMTSL4-related eye disorders, they are seen at a younger than normal age. People with these disorders can also be born with differences in the iris, the colored part of their eyes, or the pupil, the black hole in the middle of the iris. They can also have problems with their vision that lead to a condition called amblyopia (or "lazy eye"), where one eye does not see properly because the brain is favoring the other eye. Some people may have increased pressure in their eyes or detachment of the retina, the structure in the eye that captures the image and sends signals to the brain. However, these findings can be very different in members of the same family with ADAMTSL4-related eye disorders, and can even be different in each eye in a person with these disorders. These disorders do not cause any symptoms in other body parts.

If you already have a child with an ADAMTSL4-related eye disorder, this means that both parents are "carriers" for a change in the ADAMTSL4 gene. A "carrier" is someone who has a change in one of the two copies of ADAMTSL4. Since they still have one working copy, they don’t have the disease but they can pass on the one genetic change to their child. When two parents are both carriers, the chance of two carriers having a child with an ADAMTSL4-related eye disorder is 1 in 4, or 25%. There is a 1 in 2, or 50%, chance that their child will be a carrier like them. Finally, there is a 1 in 4, or 25%, chance that the child will have both working copies of ADAMTSL4 gene.

ADAMTSL4-related eye disorders are a group of conditions that cause problems primarily with the front of the eye. There can be a wide range of symptoms seen in these patients. This ranges from more severe conditions, such as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" to milder differences in the eye structure. Ectopia lentis means that the eye lens is not in the correct position. Ectopia lentis et pupillae means that both the lens and the pupil and displaced. No other parts of the body are affected by these disorders.

Normally, the ADAMTSL4 gene gives the instructions to the body to make a protein that helps to keep the parts of the eye in the right places. This protein helps form the body’s connective tissue, like ligaments, that hold parts of the body in place. When a person has changes in both of their copies of this gene, like in an ADAMTSL4-related eye disorder, the protein cannot be made properly or sometimes at all. This means the connective tissue does not work as well as it should, especially in the eye, which causes the symptoms seen in these disorders.

Changes in the ADAMTSL4 gene cause the related disorders. There can, however, be variability with how some are affected when they have this gene change. Some people are affected with more severe eye changes and some people more mildly–even within the same family.

ADAMTSL4-related eye disorders have full penetrance, but variable expression. "Full penetrance" means that everyone with changes in both their copies of ADAMTSL4 will have eye symptoms. "Variable expression" means that these eye symptoms can be different in different people, even if they have the same gene changes. For example, two sisters with the same changes in both of their ADAMTSL4 genes will both have symptoms in their eyes, but might not have the same symptoms.

Ectopia lentis, or slipping of the lens out of its usual position in the eye, is a fairly common symptom of other conditions (e.g. Marfan syndrome). However, most of the other conditions that have ectopia lentis also have other body parts that are involved. Therefore, if a person only has ectopia lentis and no other symptoms, their eye doctor should consider an ADAMTSL4-related eye disorder.

Unless a change in the ADAMTSL4 gene was already found in another family member, newborns are not tested for ADAMTSL4-related eye disorders. If you or someone in your family has an ADAMTSL4-related eye disorder and want genetic testing for your newborn, talk to your doctor about setting it up. It may be possible to do testing before the baby is born (prenatal testing) or after, depending on when you want the information.

As of May 2019, there are no current clinical research trials going on for ADAMTSL4-related eye disorders. To monitor whether any clinical trials become available, please consult the clinicaltrials.gov website.

Treatment for ADAMTSL4-related eye disorders depends on the symptoms the person is having. In children, the main goal of treatment is to prevent amblyopia (or "lazy eye"), where the brain favors one eye over the other. This can be done by giving the child glasses or by putting a patch over the "stronger" eye to help the "lazy" eye work better. Surgeries can be performed if there are problems with the lens, iris (colored part of the eye), or retina (part of the eye that sends signals to the brain). If there is high pressure in the eye, medicine can be given to lower it.

If the gene changes that are causing an ADAMTSL4-related eye disorder in the family are known (by genetic testing of a person with the condition), genetic testing is probably better. This is because the symptoms of these disorders can be very different in each family member, and so it may be hard to pick up by eye examination alone. Genetic testing for the same gene changes as the person with the disorder will be much better at telling family members their risk for eye problems.

In order for your children to have an ADAMTSL4-related eye disorder, they would have to inherit a change in the ADAMTSL4 gene from their other parent. This means their other parent has to be a carrier of an ADAMTSL4 gene change. If their other parent is not a carrier, they will not have an ADAMTSL4-related eye disorder. However, they would be carriers for a gene change in ADAMTSL4 that they inherited from you.

Your eye doctor should know the symptoms of ADAMTSL4-related eye disorders so they know what types of problems to look out for. For children, your eye doctor should be watching for amblyopia (or "lazy" eye) so it can be treated as soon as possible.

If you have a child with an ADAMTSL4-related eye disorder, both of the child’s parents must be "carriers" for the condition. This means that both parents carry one gene change (also known as a mutation) in the ADAMTSL4 gene. With every pregnancy, each parent has a 50% chance of passing on the changed gene and a 50% chance of passing on the unchanged gene. This means that there is a 25% chance that each future child will have the same disorder.

Some signs of retinal detachment are: floaters in your vision, lightning-like flashes, and a curtain like shadow in your field of vision. Since contact sports and injuries to the head can increase the chance of retinal detachment, you should watching out for these symptoms after these types of activities or injuries. If you have these symptoms, call your eye doctor as soon as possible.

Once the diagnosis of ADAMTSL4-related eye disease is made, you eye doctor will recommend and appropriate schedule for visits based on the symptoms that you are having. This may be once a year or several times a year depending on the issues that you are experiencing. This helps your doctor make sure your vision and eye health is not getting worse and to treat you quickly if a problem comes up. In general, children need more frequent visits to the doctors than adults with ADAMTSL4-related eye disorders.

If you would like to connect with local families with similar disorders, ask your eye doctor if they have other patients with an ADAMTSL4-related eye disorder that may be willing to talk to you. Your doctor could share your contact information with them (with your permission, of course), or get their permission to give you their contact information.

Your eye doctor can do an examination on your eyes and test your vision to see if you have any of the symptoms of an ADAMTSL4-related eye disorder. If you do, you can have genetic testing to look for changes in the ADAMTSL4 gene. This testing will read the gene from start to finish to see if there are any spelling mistakes. This is called sequencing the gene. This test is very good at finding changes in the ADAMTSL4 gene. It can find almost 100% of all spelling mistakes that are present in the gene.

As of May 2019, there are no clinical treatment trials for ADAMTSL4 related eye disorders. A good place to keep find clinical trials for ADAMTSL4-related eye disorders, in on the clinicaltrials.gov website.

We each typically have 2 copies of the ADAMTSL4 gene, one from our mother and one from our father. In order to have an ADAMTSL4-related eye disorder, both copies of the ADAMTSL4 gene need to have changes or mutations that make the gene not work properly. This is called "autosomal recessive" inheritance. The changes in the two copies of the ADAMTSL4 gene can be the same change or different. As long as both changes make the gene work lessor not at all, the person will have an ADAMTSL4 -related eye disorder.

You should not need an eye biopsy to find the genetic changes in ADAMTSL4. A blood test or salvia sample would be able to identify genetic changes in the ADAMTSL4 gene.

Trauma to the eyes can make the symptoms of ADAMTSL4-related eye disorders worse. Trauma especially raises the risk of detachment of the retina. Therefore, contact sports, boxing, and martial arts should be avoided to prevent trauma to the head and eye.

At this time, changes in the ADAMTSL4 gene are not known to cause other disorders other than eye disorders.

"ADAMTSL4-related eye disorders" is the name for the entire group of eye conditions that are all caused by changes in the ADAMTSL4 gene. Each condition within this group has its own name. The two main conditions related to the ADAMTSL4 gene are "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae."

As of May 2019, there are no support groups specifically for people with ADAMTSL4-related eye conditions. There are support groups for people who are affected by low vision in general. In addition, the Pediatric Glaucoma and Cataract Family Association may have useful resources if you have a child with an ADAMTSL4-related eye condition. Your eye doctor may be able to put you in touch with low vision support groups in your area.

ADAMTSL4-related eye disorders are always caused by differences in the ADAMTSL4 gene. The eye problems seen in these disorders, like slipping of the lens out of place, can be seen in non-genetic diseases, but that would not be called an ADAMTSL4-related eye disorder. In other words, not everyone with eye problems (like lenses slipping out of place) has an ADAMTSL4-related eye disorder. However, everyone with an ADAMTSL4-related eye disorder has changes in both their ADAMTSL4 genes.

Some of the same symptoms seen in ADAMTSL4-related eye conditions can be seen in other conditions. Ectopia lentis (where the eye lens is out of place), seen in this condtion, can also be caused by mutations in one copy of a person’s FBN1 gene. If someone has ectopia lentis, testing the FBN1 gene should be done in addition (or maybe even before) testing the ADAMTSL4 gene. FBN1 gene changes can also cause other symptoms, such as tall stature, thin body, and long fingers. Other disorders that can cause ectopia lentis include Marfan syndrome, homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, and LTBP2 gene changes.
Ectopia pupillae, where the pupil (black hole in the middle of the eye) is moved out of place, can also be seen in conditions such as aniridia, Axenfed-Rieger anomaly, and iridocorneal endothelial syndrome.