Adamtsl4-related eye disorders
What are the main symptoms of ADAMTSL4-related eye disorders?
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.
More Symptoms Content
When do the symptoms of ADAMTSL4-related eye disorders usually appear?
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.
Any other diseases that look a lot like ADAMTSL4-related eye disorders?
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.
Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of ADAMTSL4-related eye disorders?
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.
Is there variable expression or incomplete penetrance in ADAMTSL4-related eye disorders?
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.
Do changes in the ADAMTSL4 gene cause any other disorders?
At this time, changes in the ADAMTSL4 gene are not known to cause other disorders other than eye disorders.