Adamtsl4-related eye disorders

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.

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.

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.

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).