Ectopia Lentis

Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the lenses (cataracts), and increased pressure in the eyes (glaucoma). In some individuals, IEL can progress to retinal detachment (tearing of the back lining of the eye). IEL is caused by genetic changes in either the FBN1 or ADAMTSL4 gene. When caused by a genetic change in the FBN1 gene, IEL is inherited in an autosomal dominant manner. When caused by a genetic change in the ADAMTSL4 gene, IEL is inherited in an autosomal recessive manner.

Genetic Mutations: Isolated ectopia lentis is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.

Known Genetic Mutations: Isolated ectopia lentis is caused by genetic mutations in the following known gene(s):

ADAMTSL4, FBN1

Given these known genetic mutation(s), you may want to ask your health care team if genetic testing is right for you. Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Genetic testing can help confirm or rule out a suspected genetic disease, or can provide other useful information to your health care team.

Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team.

There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD’s current data, this disease can be inherited in the following pattern(s):

Autosomal Dominant: Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Autosomal Recessive: Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn’t show any symptoms of the disease.

If both biological parents are carriers, there is a 25% chance their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.