Macular Dystrophy: Cause, Symptoms and Treatment

Macular Dystrophy is a rare eye disease that is caused by a genetic mutation. It results in the breakdown of the macula and eventually a loss of sharp central vision. In contrast, peripheral vision is not harmed. This post will try to answer most of the questions related to Macular Dystrophy and provide some useful treatments.

What Is Macular Dystrophy?

Macular Dystrophy (MD) is the deterioration of the macula. The macula lutea is a functional part of the retina and is responsible for seeing clearly and in great detail. The disease can eventually lead to the complete loss of central, color, and high-resolution vision. Vision loss can happen in adulthood or even in childhood. It often develops slowly over time.

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Macular Dystrophy Types

There are several types of macular Dystrophy. Some of them can occur early in childhood, and some in early adulthood.

  • Stargardt Macular Dystrophy or Stargardt Disease is the most common juvenile type of MD. It is estimated that 1 in 8-10 thousand people have this type of MD. It is caused by the inadequate removal of the macula’s waste products, leading to the degeneration of photoreceptor cells in the macula. A special layer of cells supporting photoreceptors, the retinal pigment epithelium (RPE), is also affected.
  • Vitelliform Macular Dystrophy may occur during childhood or in early adolescence. In that case, it is called Best Disease. This is a type of macular Dystrophy where drusen (lipid and carbohydrate deposits) accumulates in cells underlying the macula, forming a tiny cyst. It is bright yellow, fluid-filled sac that looks like a sunny-side-up egg. Eventually, the cyst ruptures, causing the deposits and fluid to spread throughout the macula. When it happens, the macula and the cells beneath the macula begin to degenerate, causing progressive vision loss. Another variation of Vitelliform Macular Dystrophy is an Adult-Onset Vitelliform Macular Dystrophy. It typically starts in mid-adulthood, somewhere between the 4th and 5th decade of life. Variability of signs is present, from mild to severe ones. The overall prognosis is usually good, although central vision loss is possible.
  • Sorsby Macular Dystrophy, also known as Sorsby Fundus Dystrophy, is manifested by the yellowish-grey deposits in the macula, causing edema and hemorrhage, thus damaging the macula. A growing of abnormal blood vessels beneath the retina called choroidal neovascularization (CNV) is one of the disease’s main characteristics.
  • Pigmentary Retinal Dystrophy includes retinal pigmentation abnormalities, like speckled, patchy, and sometimes even butterfly-shaped hyperpigmentation in the macular area. It usually occurs later in life.
  • Macular Corneal Dystrophy represents inherited cloudiness of the cornea (a transparent part of the eye that covers the iris and the pupil). Multiple white/gray-colored deposits lead to pain and discomfort and often to blurred vision.
  • X-linked Retinoschisis is a hereditary disease, causing visual loss due to the splitting of the retinal layers. Cystic macular lesions like blisters are the main characteristic of the disease, but some medicaments can treat them.

Causes of Macular Dystrophy

As we stated before, the causes of MD are linked to the mutation of the specific genes. They somehow trigger the atrophy of the cells in the retina and macula, so cells lose their function. These specific genes help moving chemicals between cells in the retina. When they do not work correctly, then it comes to fluid build-up and other functional abnormalities. But, in many cases remains unknown which gene is affected.

People with MDs usually have a parent with the disease. Some types of MDs are inherited in an autosomal dominant pattern, which means that only one parent has to have an altered gene and a condition so that the child can develop the symptoms. Other types follow an autosomal recessive pattern; both parents carry one copy of the mutated gene, but they typically do not have the disease.

Macular Dystrophy Symptoms

Symptoms of MD are painless and vary with each person. Some people will not notice a decline in eye vision; others will have significant vision loss. It can affect both eyes equally, or the degree of loss may be different in each eye. Individuals with MD eventually will not be able to read, drive, or do other daily activities that require looking straight ahead. The vision loss tends to progress slowly over time, but the side vision will stay intact. This means that a person will not be totally blind.

Some symptoms may include:

  • Reduced sharpness
  • Dark spots in your central vision (usually in the morning)
  • Sensitivity to light/glare
  • Distorted/bent shapes (metamorphopsia)
  • Blurred vision
  • Slow dark adaptation
  • Color vision abnormalities (color deficiency)
  • The disappearance of the objects
  • Difficulty recognizing faces

If you experience any of these symptoms, please visit an ophthalmologist. The doctor will conduct an examination to look at your retina and macula.

Macular Dystrophy vs. Macular Degeneration

Macular degeneration is an eye disease that affects the elderly population, usually over 60 years of age. The cause of Macular degeneration is a combination of few factors: age, lifestyle, environment, and some genetic predispositions. But it does not follow clear hereditary patterns as Macular Dystrophy does. So, avoiding the risk factors may diminish the chance of having Macular degeneration.

Only conducting molecular genetic testing can distinguish between these two and allow proper diagnosis. Special laboratories do that kind of test; they can find the same gene “responsible” for the disease and the risk of passing the condition from parents to children.

Macular Dystrophy Treatment

Although there is no cure for MD yet, some medicines and procedures can slow down the disease and stabilize the vision as long as possible.

In a case of MD with choroidal vascularization, some drugs like anti-VEGF (anti-vascular endothelial growth factor) can help limit the formation of abnormal blood vessels. It is injected into the patient’s eyeball through a small needle. It is most effective when injected right after the formation of the new blood vessel.

Some research involves the usage of stem cells from human embryonic stem cells. These cells can differentiate into other types of cells to replace them. The aim of the study is to see if the stem cells can be “persuaded” to differentiate into a retinal cells to replace the damaged ones. But these researches are in the beginning stages of the investigation.

Gene therapy is being developed to treat all kinds of inherited eye conditions. It is a technique that uses a virus or bacteria as a carrier (vector) to deliver the “healthy” gene to the retinal cells and replace the damaged ones.

Many doctors advise patients with MD to avoid head trauma and strenuous exercise, especially if they have Vitelliform Macular Dystrophy. Increased eye pressure can lead to the bursting of the cysts and disruption of the fluid, and consequently to the further deterioration of the sight.

Acupuncture for Macular Dystrophy

From its roots in Traditional Chinese Medicine, acupuncture is a method of insertion of sterile and very fine needles into specific spots to stimulate body healing. A flow of qi (vital energy) and balancing Yin and Yang (contradictory opposites – in this case, health and disease) help restore a balance in our body and mind.

Special ophthalmological acupuncture – Micro Acupuncture 48 is a system that helps ease some of the diseases affecting vision like macular degeneration, Best disease, diabetic retinopathy, glaucoma, Stargardt’s disease, cataracts, etc. Acupuncturist will stimulate 48 acupuncture points in the hands, feet, and forehead, avoiding eyes. It increases the blood flow to the eye, improving detoxification of solid and liquid waste and decreases ocular oxidative stress. The best results are visible when supported with the proper diet, exercise, and supplements. It is possible to recover, slow, or even stop the progress of the disease. Of course, it depends on the severity of the disease, the patient’s age, and the length of time the patient has had a disease.