EFEMP1 helps make fibulin-3, a protein that supports the tissue framework around cells, especially in the eye and other connective tissues. When the EFEMP1 gene does not work as expected, material can build up under the retina, which may lead to blurred or distorted central vision over time. This gene plays an important role in keeping retinal tissue stable. Pathogenic variants in the EFEMP1 gene are best known for causing an inherited eye condition called Doyne honeycomb retinal dystrophy.
What is a gene?
A gene is a stretch of DNA that carries instructions your cells use to make molecules or guide activities in the body. Some genes hold the directions for making proteins, which are the parts of cells that do much of the work. Other genes mostly regulate when certain processes happen, where they take place, and how strongly they operate. Together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, and medications. To explore this subject in more detail, you can learn more in the LearnHub.
Overview
EFEMP1Gene function
What if the gene works
The EFEMP1 gene helps make fibulin-3, a protein in the body’s support framework around cells. It supports elastic tissue strength and normal structure in places like the eyes, skin, and blood vessels.
Risk
What if the gene does not work
Variants in the EFEMP1 gene are known for causing an inherited macular condition with yellow deposits under the retina and central vision loss. Milder and more severe variants can influence when changes appear and how much vision is affected.
Treatment
What does that mean for your treatment
No EFEMP1-specific treatment or management approach is currently established in clinical guidelines. Care is based on the person’s symptoms and standard eye care when vision is affected. The EFEMP1 gene is also being studied as a biomarker and possible treatment target in retinal disease and some cancers.
Conditions associated with EFEMP1
Gene function
What if the gene works
The EFEMP1 gene helps build and maintain the supportive material that surrounds your cells. Its protein, called fibulin-3, is released outside cells, where it becomes part of the body’s tissue framework. Knowing what the EFEMP1 gene does helps explain how many tissues keep their shape, stay anchored, and handle everyday wear.
The EFEMP1 gene helps make fibulin-3, a protein that becomes part of the extracellular matrix, the supportive material around cells. This outer framework helps tissues keep their shape and stay organized.
Fibulin-3 is especially important in basement membranes, the thin support layers under many cells. These layers help tissues stay attached, lined up, and structurally steady.
EFEMP1 also supports the network of fibers and partner proteins that give some tissues stretch and recoil. This helps body structures stay flexible while still holding together.
What is a variant?
A genetic variant is a minor change in the DNA sequence of a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some cases, though, a variant changes how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
To understand how variants in the EFEMP1 gene change protein function, it helps to know that many changes make fibulin-3 fold the wrong way. Some variants have a mild effect on protein stability or secretion, while more disruptive variants can greatly reduce the amount that reaches the tissue around cells or cause it to clump abnormally. In the retinal condition linked to the EFEMP1 gene, this functional range can influence how early changes appear and how marked they become.
How variants are linked to conditions
Pathogenic variants in the EFEMP1 gene are best known for causing an inherited eye condition called Doyne honeycomb retinal dystrophy, also known as Malattia Leventinese. This condition affects central vision and often becomes noticeable in adulthood. In discussions of the EFEMP1 gene and inherited macular dystrophy, this is the main well-established health link.
A variant is not necessarily a diagnosis
Genetic variants are a normal feature of human biology and are common in the general population. Most do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors are involved. In some situations, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For EFEMP1, risk is mainly shaped by whether a disease-causing change in the gene is inherited, and symptoms often become more likely with age. There is not enough evidence to say that lifestyle changes clearly raise or lower EFEMP1-related risk. People with concerns about their personal or family risk can discuss this with a doctor or genetic counselor.
Inheritance of EFEMP1 variants
For people reading about how EFEMP1 variants are inherited, the best established pattern is autosomal dominant. This means a person with a disease-causing variant in one copy of the EFEMP1 gene can pass it on to a child, and each child has a 50% chance of inheriting that variant. It can be passed from a mother or a father to sons or daughters. In families with EFEMP1-related eye disease, the variant often appears across several generations.
What does my EFEMP1 result mean for my family?
For EFEMP1, family impact is usually discussed in terms of a dominant pattern, which means close relatives such as a parent, brother, sister, or child may also carry the same gene change. In families with an EFEMP1 change linked to inherited macular disease, relatives can have very different symptoms, from mild vision changes to more noticeable trouble with central vision. Because of that, the result can be relevant to other family members even if their eyesight seems normal now.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for EFEMP1 variants usually uses a blood or saliva sample to read the DNA sequence of the EFEMP1 gene. It can show whether you carry a variant linked to an inherited eye condition, and results are reported as pathogenic, likely benign, benign, or uncertain.
When should I consider getting a genetic test?
Genetic testing for the EFEMP1 gene may be worth considering if you or close relatives have an inherited macular eye condition with drusen, central vision changes, or a diagnosis such as Doyne honeycomb retinal dystrophy. It can help confirm whether EFEMP1 is the cause and clarify family risk.
A genetic result is only one part of your health story
A genetic test result can provide useful insight, but how much it reveals depends on the condition and the kind of variant involved. Factors such as lifestyle, environment, age, and medical history also shape how the body works over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best understood together with other parts of care. In other situations, a genetic result can provide a clear answer. In areas like medication response, it can also help explain individual experiences.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down a drug, moves it through the bloodstream, or reacts at the drug’s target. This helps explain why the same treatment works well for one person, works less well for another, or causes more side effects in someone else. These differences are common and are one part of the bigger picture, along with age, kidney and liver function, other medicines, and overall health.
What is Pharmacogenetics?
Pharmacogenetics studies how differences in genes affect the response to medications. It examines relationships between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can shape how the body processes a drug and how strong its effects are. This understanding can support more informed, individualized treatment decisions. You can read more about this topic in the LearnHub.
Drugs influenced by the EFEMP1 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding how medicines are chosen or how well they work, so any concerns about side effects, new symptoms, or changes in your treatment are best discussed with your doctor.
History
EFEMP1 entered medical genetics through studies of families with an inherited eye condition called Doyne honeycomb retinal dystrophy, also known as Malattia Leventinese. Researchers recognized that these two names described the same condition in families from different regions, which helped unify earlier clinical observations. From these first observations, research expanded steadily. In the late 1990s, a specific variant in the EFEMP1 gene was identified as the cause, marking an important step in linking a visible retinal pattern to a single gene. That discovery helped clarify diagnosis for affected families and became a lasting example of how rare inherited eye conditions can reveal broader lessons in human genetics.