Home » Maculopathies, familiarity has something to do with it. But they can be prevented, here’s how

Maculopathies, familiarity has something to do with it. But they can be prevented, here’s how

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Maculopathies, familiarity has something to do with it.  But they can be prevented, here’s how

Imagine looking at a painting full of vibrant colors and sharp details. Suddenly, an opaque spot forms in the center of the image, slowly expanding, swallowing up detail and clarity. Maculopathy is just like this spot that affects the macula, the central part of the retina responsible for clear vision. Those who suffer from this condition live as if they are looking at the world through this clouded glass, where the heart of the image, the focus of vision, is irremediably altered, leaving only the outlines and peripheral details of the landscape intact.

In Italy more than one million people suffer from a form of maculopathy and every year 63,000 new cases are diagnosed, but these numbers are inevitably destined to increase, due to the progressive aging of the population, as well as the increase in risk factors such as diabetes.

The ‘family’ of maculopathies

Maculopathies are a group of diseases that affect the macula, the central part of the retina responsible for the detailed vision needed for activities such as reading, driving and recognizing faces. Maculopathies can significantly reduce the quality of central vision, while leaving peripheral vision intact.

The most common form of maculopathy, especially among the elderly, is age-related macular degeneration which occurs in two forms: dry (atrophic) and wet (neovascular). “The dry form is the most common and least serious, characterized by thinning of the macula and the presence of small deposits. The wet form, more serious, is caused by the growth of new abnormal blood vessels under the retina, which can leak fluid or bleed, causing rapid damage to vision,” he explains Francesco Bandellodirector of the Ophthalmology Unit of the Irccs San Raffaele Hospital in Milan and president of the Retina Patients Association.

According to recent estimates, in Italy, the range of epidemiological data on macular degeneration is very wide, ranging from a minimum prevalence of around 130 thousand people affected to a maximum of around 480 thousand. Cases of diabetic macular edema are also increasing, affecting 6.8% of the 4 million diabetic patients and arising when damaged blood vessels leak liquids into the macula, causing it to swell.

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The risk factors

These are pathologies that can seriously compromise patients’ quality of life and in some cases cause poor vision or even blindness. There are many risk factors to pay attention to: “First of all, age and gender matter because this pathology occurs more frequently after the age of 60 and predominantly among women, but smoking also plays a role because it has been seen that People who smoke are twice as likely to develop age-related macular degeneration than people who don’t smoke.”

The economic impact of the disease on the National Health Service is also significant: the estimated cost is 60 thousand euros per patient; the greatest waste of resources is associated with social costs, equal to 67.83% of expenditure. Pharmacological treatment accounts for 16.58% of the total.

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Like a puzzle

Genetics also plays a role because those who have a close relative with this pathology run a higher risk of developing it themselves. Another factor to consider is exposure to ultraviolet radiation which can damage the macula.

“We must imagine these pathologies as if they were a puzzle”, exemplifies Bandello. “The frame is represented by genetic factors: if a person in the family has relatives who suffer from senile macular degeneration it means that there is a generic predisposition to develop the disease, but if this predisposed person then places the card of the cigarette smoking, exposure to solar radiation or an unbalanced diet, in the end the puzzle is completed and that person will also get sick.” Instead, even when there is a familiarity, if one manages to intervene on the risk factors, one can simply remain predisposed but not get ill.

Prevention begins at age 50

Not even the fact that senile macular degeneration is related to age means that we must resign ourselves to the fact that just as, after a certain age, wrinkles appear on the face, in the same way we will inevitably have problems with the macula. How to prevent? “We must avoid excess animal fats and sugars and prefer fruit, vegetables, legumes, fish, carbohydrates and olive oil as prescribed by the Mediterranean diet which can really protect against the development of macular degeneration”, replies Bandello who adds: “In addition to avoiding smoking, it is also important to protect your eyes from the sun just as we protect our skin by wearing glasses.”

Anti-Vegf therapies

But when the disease manifests itself by affecting daily activities, such as seeing faces, reading and driving, therapy is needed. “The main treatment for wet age-related macular degeneration is a type of drug called a ‘Vegf inhibitor’, vascular endothelial growth factor, a protein that stimulates the growth of new blood vessels, and treatment with Vegf inhibitors stops this process”, explains Bandello. These drugs, which are injected into the eye, can stop the growth of new blood vessels, prevent further damage to the macula and loss of vision although they cannot repair damage that has already occurred.

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“The problem with these drugs is that they have a limited duration of time because the effects can last one or two months but then they have to be injected again and this can lead the patient to abandon therapy due to difficulties in going to hospital.”

Abandonment of therapy

According to the standard recognized by the scientific community, patients suffering from age-related macular degeneration should undergo at least 7 intravitreal injections in the first year, followed by at least 4 in subsequent years, but 50% of patients are already lost in the 2nd year follow-up , often due to concomitant pathologies which add to the organizational difficulties in planning the numerous visits. Fear of injections and frequent visits, in fact, are the main causes of non-adherence to therapy by patients who complete on average only 3.6 injections/year.

“At the beginning – says Bandello – the wife, children or whoever has the role of caregiver willingly agrees to skip a day of work to accompany the patient to therapy, because they see the smile on the faces of the family members, but at at a certain point that smile fades away and the patient himself consciously decides to abandon the therapy and resign himself to becoming visually impaired”.

New therapies

Thanks to scientific innovations, today there are also other drugs that lengthen administration times: “There are new therapies that are based on a sort of ‘reservoir’ that is applied to the ocular wall and has a semi-permeable membrane that releases a therapeutic quantity of drug inside the eye. This method of administration reduces the discomfort for the patient linked to the number of intravitreal injections because the effect of these new drugs lasts from 4 to six months”.

Are there any therapies for dry macular degeneration, which affects over 80% of patients with macular degeneration? “Finally – replies Bandello – there is starting to be some therapeutic solution approved in the United States in 2023 but recently the EMA’s Committee for Medicinal Products for Human Use blocked the authorization by requesting more evidence on the improvement of the pathology, a request that is impossible to satisfy given that dry macular degeneration is a degenerative disease that inevitably worsens and therefore no therapy will ever be able to give patients back the photoreceptors that are already dead.”

270 day waiting lists

If having to frequently go to hospital for intravitreal injections is the biggest difficulty for patients, there is no shortage of other practical problems that have a strong impact on the quality of life. Among the main problems encountered by those suffering from this pathology, as shown by the reports received by the Cittadinanzattiva protection services, there are the long waiting lists for access to treatment, starting with a simple eye examination for which in the public an average of 270 days is expected. But delays in diagnosis and in the subsequent start of pharmacological treatment also weigh heavily; the difficulty of adhering to therapies characterized by frequent administration and the lack of personalization of treatments with evident negative consequences for patients and healthcare facilities.

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A Road Map in 16 points

While waiting for national guidelines that guarantee greater homogeneity of access to services and treatments across the territories, Cittadinanzattiva has created, with the unconditional support of Roche, a Road Map for the care of people suffering from maculopathy (downloadable at this link). The Road Map, created with a technical table made up of clinicians and patient associations, defines 16 points – divided by the three fundamental areas relating to diagnosis, appropriateness and therapeutic adherence and territorial healthcare organisation.

“The recognition of maculopathies as chronic pathologies and the consequent inclusion in the National Chronicity Plan is fundamental; this would allow patients and their caregivers to see a whole series of rights recognized which are not currently enforceable”, he declares Anna Lisa Mandorinogeneral secretary of Cittadinanzattiva.

The inclusion of maculopathies in the Lea

Among the most urgent requests is to provide for the inclusion of regional LEAs for maculopathies and to distribute the OCT (Coherent Radiation Optical Tomography) machine uniformly and homogeneously in all public clinics in the area. “To date the situation is very critical and few resources, both in human and structural terms, are allocated for this pathology. For this reason, the inclusion of maculopathies in the Lea represents a great need, as does the establishment of centers dedicated to the treatment in charge of patients”, he underlines Massimo Nicolò, head of the Retina Center of the San Martino Polyclinic in Genoa and scientific coordinator of the Parliamentary Intergroup for the Prevention and Treatment of Eye Diseases. “A bill on chronic degenerative eye diseases such as maculopathy is in an advanced approval process. This means how important it is for civil society, together with ophthalmologists, to carry out awareness and knowledge campaigns aimed at citizens but above all at institutions who are starting to respond to our cry of alarm.”

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