The ADAMTS18 gene helps shape and maintain the supportive material around cells, especially in the eyes. This gene plays an important role in normal eye development, and when both copies do not work properly, a person may be born with inherited eye changes that affect vision, such as small corneas, severe nearsightedness, or retinal changes. Research also suggests it supports other tissues, but its clearest medical link is to eye conditions.
What is a gene?
Genes are stretches of DNA that provide cells with instructions to make molecules or to manage processes in the body. Some genes hold the information needed to produce proteins, the parts of cells that do much of the work. Others mainly regulate when certain processes occur, where they occur, and how strongly they run. Taken together, genes affect how the body develops and functions, and they can shape how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
ADAMTS18Gene function
What if the gene works
The ADAMTS18 gene helps make a protein that works outside cells to shape and maintain supportive tissue. It is especially active in the eyes and may support normal eye development.
Risk
What if the gene does not work
Pathogenic variants in the ADAMTS18 gene are mainly linked to an inherited eye condition with small corneas, widely spaced eyes, and vision loss. Milder and more severe variants can affect which features appear and how strongly vision is affected.
Treatment
What does that mean for your treatment
No ADAMTS18-specific treatment or management approach is currently established in clinical guidelines for people with a pathogenic variant in the ADAMTS18 gene. The ADAMTS18 gene is being studied mainly as a possible biomarker and as a gene that may help limit uncontrolled cell growth in cancer research, but this does not yet guide routine drug choices.
Conditions associated with ADAMTS18
Gene function
What if the gene works
Many cells release the protein from the ADAMTS18 gene into the space around them, where it helps keep tissues organized. It supports the extracellular matrix, the protein mesh that gives tissues shape and helps cells stay in place. Understanding what the ADAMTS18 gene does in the body helps explain how everyday tissue maintenance works.
Its protein is released from cells and works in the space between them. This lets it act directly on the material that supports tissues.
It helps manage the extracellular matrix (the supportive mesh around cells). This supports cell attachment, spacing, and the overall structure of tissues.
It acts as an enzyme that cuts selected proteins outside cells. This controlled trimming helps with normal tissue renewal and remodeling.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These differences are common and help make up normal human diversity, including differences in appearance, metabolism, or how the body responds to environmental influences. Many variants do not cause any noticeable effect and simply represent natural genetic variation. In some cases, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
ADAMTS18 gene variants can change the protein’s shape, stability, or release outside the cell, which may reduce how well it works in surrounding tissue. More disruptive variants, such as early stop or splice changes, can sharply lower or eliminate protein production, while some single letter changes may leave partial activity. This range from milder to more severe variants can influence the degree of functional loss and, in people with disease causing changes in both copies, may relate to earlier or more pronounced eye findings.
How variants are linked to conditions
Pathogenic variants in both copies of the ADAMTS18 gene cause a rare inherited eye condition called microcornea, myopic chorioretinal atrophy, and telecanthus syndrome. In practical terms, ADAMTS18 gene related eye disease may involve small corneas, marked nearsightedness, and changes at the back of the eye that can reduce vision. Reports also describe other uncommon eye findings in some families, but this remains the main well established diagnosis linked to the ADAMTS18 gene.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widely seen in the general population. Most have no direct impact on health and simply reflect natural variation among people. For many genes, carrying a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when several genes and environmental influences play a role. In some situations, though, a single well understood variant in a specific gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that increase or reduce health risk related to ADAMTS18. Anyone with concerns about personal or family risk can speak with a doctor or genetic counselor.
Inheritance of ADAMTS18 variants
For families wondering how ADAMTS18 gene variants are inherited, the established pattern is autosomal recessive. This means a child usually inherits one altered copy of the ADAMTS18 gene from each parent. When both parents carry one variant, each pregnancy has a 25% chance of resulting in a child with the condition, a 50% chance of a child who is a carrier, and a 25% chance of a child who inherits neither variant. Boys and girls are affected equally.
What does my ADAMTS18 result mean for my family?
For families with a disease-causing ADAMTS18 result, the best-known pattern is recessive. This usually means parents may be healthy carriers, and brothers or sisters could also be affected or be carriers. Other close relatives may carry the same change, so family testing can sometimes help clarify who else in the family may be affected or may pass it on.
Genetic information
Genetic testing
How you find out about variants
Variants in the ADAMTS18 gene are found through genetic testing, usually using a blood sample or saliva sample. In genetic testing for variants in the ADAMTS18 gene, a lab reads the DNA sequence and compares it with the usual sequence to identify changes, then reports whether a variant was found and how it is classified.
When should I consider getting a genetic test?
Genetic testing for the ADAMTS18 gene may be worth considering when a child or adult has a rare inherited eye condition, especially very small corneas, strong nearsightedness, retinal damage, or early vision loss. It can also help when similar vision problems run in the family or affect more than one sibling.
A genetic result is only one part of your health story
A genetic finding can provide useful insight, but how much it explains depends on the condition and the type of variant involved. Lifestyle, environment, age, and medical history are among the many factors that shape how the body functions over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best understood alongside other parts of care. In other situations, it may provide a clear answer. In areas like medication response, genetic results can also help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Some people break down a drug faster or slower than expected, while others may be more or less sensitive to its effects. This helps explain why the same treatment can work well for one person, cause more side effects in another, or seem to have less effect in someone else.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can shape a person’s response to medications. By looking at links between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medicines, genes can affect both how the body processes a drug and how strong its effects are. This information can support treatment decisions that are more informed and more individualized. You can read more about this topic in the LearnHub.
Drugs influenced by the ADAMTS18 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how someone will respond to medicines. If you have side effects, trouble with a treatment, or questions about your health or medications, speak with your doctor or pharmacist.
History
In recent decades, awareness of the ADAMTS18 gene’s role has grown through laboratory and clinical research. It was identified as part of the ADAMTS gene family during a period when scientists were sorting many related genes involved in body development and tissue structure. Early studies then mapped the gene to chromosome 16 and began linking it to inherited eye conditions in some families. Building on this early work, scientists also explored ADAMTS18 in cancer research after finding that its activity could be reduced in certain tumors. Over time, these findings made the ADAMTS18 gene part of a broader story about how newly identified genes move from basic discovery into medical genetics.