Macular degeneration: Breakthrough in research into age-related blindness

Macular degeneration: Breakthrough in research into age-related blindness

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Understanding of age-related macular degeneration improved

Researchers have identified a specific protein related to age-related macular degeneration (AMD) that could offer new hope for the diagnosis and treatment of the disease. Age-related macular degeneration is considered the main reason for blindness in western industrialized countries.

The latest study by the Queen Mary University of London found that a certain protein appears to play an important role in age-related macular degeneration. The results of the study were published in the English language journal "Nature Communications".

FHR-4 protein found in the macula

The research group found significantly higher levels of a protein called factor H-related protein 4 (FHR-4) in the blood of AMD patients. Further examination of eye tissue donated to medical research showed the presence of FHR-4 in the macula, the specific region of the eye affected by the disease.

Results could contribute to an earlier diagnosis

The results of the study open new avenues for early diagnosis by measuring the level of FHR-4 in the blood and suggest that therapies that target this protein may offer promising future treatment options for the disease. FHR-4 regulates the so-called complement system, a part of the immune system, which plays a decisive role in inflammation and the defense against infection of the body.

Genetically inherited errors in important complement proteins increase the risk

Previous studies have linked the complement system to age-related macular degeneration and have shown that genetically inherited errors in important complement proteins are strong risk factors for the disease.

Researchers were looking for changes in the genome

In the current study, the researchers used a genetic technique to identify specific changes in the genome associated with the increased levels of FHR-4 found in AMD patients.

FHR-4 levels in the blood are associated with changes in genes

It has been found that higher levels of FHR-4 in the blood are linked to changes in genes, in particular genes that code for proteins of the factor H family that form a cluster within a specific region of the genome. The identified genetic changes also overlapped with genetic variants that were first blamed for increasing the risk of AMD over 20 years ago.

Inherited genetic changes can lead to higher FHR-4 levels in the blood

Taken together, the results suggest that inherited genetic changes can lead to higher FHR-4 levels in the blood, which leads to an uncontrolled activation of the complement system in the eye and drives the disease.

AMD has two main types

There are two main types of AMD (wet AMD and dry AMD). While there are some treatment options for wet AMD, there are currently no treatment options for dry AMD.

Results could eventually make treatment possible

This study is a change in understanding how complement activation drives this important blindness disorder. So far, the role of FHR proteins in diseases has only been suspected. Now that a direct relationship has been shown, it has come a tangible step closer to identifying a group of potential therapeutic targets for the treatment of this debilitating disease.

FHR-4 is a crucial control body

The combined protein and gene findings provide convincing evidence that FHR-4 is a crucial control entity for the part of the immune system that affects the eyes. Aside from a better understanding of the cause of AMD, this work also provides a way to predict the risk of the disease by simply measuring the blood levels of FHR-4. This also offers a new way of treatment by reducing the blood levels of FHR-4 to restore the function of the immune system in the eyes.

FHR-4 values ​​in plasma are an important predictor

Genetically dictated plasma FHR-4 levels are an important predictor of the risk of developing AMD. The unique antibodies and tests that have been developed have the potential to contribute not only to risk prediction but also to new ways of treating this common and devastating disease, the researchers report. (as)

Author and source information

This text corresponds to the requirements of the medical literature, medical guidelines and current studies and has been checked by medical doctors.


  • Valentina Cipriani, Laura Lorés-Motta, Fan He, Dina Fathalla, Viranga Tilakaratna et al .: Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration, in Nature Communications 11 (published February 7, 2020) , Nature Communications

Video: Wet Age-Related Macular Degeneration wet AMD Explained (November 2022).