All about Best Disease – Cause, Symptoms and Effective Alternative Treatments
Best eye disease, also known as vitelliform macular dystrophy, is a rare hereditary disorder presented by German ophthalmologist Dr. Friedrich Best in 1905. It causes macular degeneration and a gradual deterioration of central vision. Both eyes are affected, but usually not to the same extent.
The Best disease occurs 1 in every 16,500 to 21,000 people, with both males and females equally affected. The usual age of presentation is within the first 2 decades.
There are two main forms of vitelliform macular dystrophy: Best disease (Best vitelliform macular dystrophy) with onset in childhood, and adult-onset vitelliform macular dystrophy, which presents between 40-60 years.
The prognosis for the Best disease is mixed, which means that most people will maintain reading vision in at least 1 eye throughout life. The vision deterioration is usually very slow until after the age of 40 years.
This article will present detailed information about the Best disease, its causes, clinical stages, most common symptoms, and the most effective alternative treatments available – acupuncture for Best disease, Chinese herbal treatment, and Nutrition and lifestyle counseling.
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Michael Woodworth as a leading TCM practitioner, is California Board certified in Acupuncture, Nationally Certified Chinese Herbalist and Dip. of Oriental Medicine, also Advanced herbal diplomat with many years of experience in treating eye diseases.
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What is the Best Disease?
Best disease onsets in childhood and is an inherited eye condition that affects the macula.
Macula lutea is the small, oval-shaped, yellowish area of the retina near the optic disc that provides central, sharp, clear, and straight-ahead vision. It is basically responsible for visual acuity.
In the initial stages, a fluid-filled sac (bright yellow cyst) forms in the layer of cells that are called retinal pigment epithelium (RPE). RPE is a layer of cells providing support for photoreceptors.
The cyst looks like a sunny-side-up egg, with the fluid made up of fatty yellow pigment, lipofuscin. Over time the accumulation of the lipofuscin can damage the light-sensitive cells essential for clear central vision.
The sight may become blurry, but peripheral vision and the ability to see at night are usually not affected.
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Best Disease Causes
Best disease is a genetic condition, which means that it is caused by a faulty gene inherited from a parent. Researchers have linked BEST1 and, in some cases, PRPH2 gene mutations to the Best disease.
BEST1 gene provides instruction for making a protein bestrophin1, which functions as a channel across cell membranes in the retinal pigment epithelium. Through these channels, chlorine and calcium ions are transported in response to cellular signals.
How is the Best disease inherited? There are several ways of gene inheritance, also known as patterns of inheritance. The Best disease is inherited in autosomal dominant pattern, although rare cases of autosomal recessive inheritance pattern have been reported.
The autosomal dominant pattern means that the faulty gene is inherited from only one of your parents who already have the disease and is called the affected parent carrier. Therefore, there is a 50% chance of having an affected child with one mutated gene (dominant gene) and a 50% chance of having an unaffected child with two normal genes (recessive genes).
Best Disease Symptoms
Early signs of Best disease usually develop between the age of 3 to 15. However, there is not much effect on vision in the early stages, so the child may not notice a sight problem.
The disease symptoms vary from person to person but always involve a central vision loss. Some carriers remain asymptomatic; others suffer from gradual deterioration of visual acuity. It is always painless.
Other symptoms may include deviation of either vertical or horizontal lines (metamorphopsia), difficulties distinguishing between or recognizing colors, blind spot (scotoma), reduced ability to perceive fine details. In some cases, farsightedness (hyperopia) is associated with the Best disease.
The peripheral vision and the ability to see at night are often maintained.
Best Disease Stages
There are 5 main stages in Best disease development, with the 6th one found in only a small number of cases.
- Stage 1 – Previtelliform stage: in this stage macula looks normal, and no changes are detected. There may be some subtle changes in the PRE layer of cells, but it does not impair the vision.
- Stage 2 – Vitelliform stage: there is a lesion on the macular area that looks like an egg yolk. An ophthalmologist can see the changes appearing, but there is still no effect on the vision.
- Stage 3 – Pseudohypopynon stage: at this stage, a lesion becomes a blister and can break through the RPE cells, forming a cyst full of fluid. This fluid can shift with changes in position.
- Stage 4 – Vitelliruptive stage: the vitelliform cyst begins to break up and can cause damage to the retinal cells. There is a scrambled egg appearance of a cyst, and at this stage, you can experience changes in your vision.
- Stage 5 – Atrophic stage: the yellow material inside the cyst begins to withdraw and disappear, leaving an area of atrophic RPE cells.
- Stage 6 – Stage of choroidal neovascularization: found in only rare cases. It develops during the atrophic stage. The main characteristic is creating new blood vessels when the eye starts to try fixing the damage. But those blood vessels are leaky and can bleed, eventually leading to scarring tissue forming and further deterioration of the sight.
Best Disease Treatment
There is currently no effective treatment for the Best eye disease. But for the future, some research involving traditional and genetic therapies may be available.
Patients who develop the 6th stage can be treated effectively with anti-VEGF drug injection into the eye. It is a category of drugs that reduce the growth of the new blood cells; it cannot improve the sight but can prevent further damage.
Photodynamic therapy uses a laser and a special medicine that works when exposed to a certain type of light. The laser light activates the medication, and it created blood clots in the abnormal blood vessels.
It has proven helpful for regression of neovascular lesion and resolution of exudative (leaking out) manifestations, so there are positive results in increasing or stabilizing the visual acuity.
Gene therapy is being researched as a possible Best disease treatment. The main aim is to replace the mutated gene with a new gene that works properly.
Acupuncture for the Best Disease
As part of TCM (Traditional Chinese Medicine), acupuncture can boost the overall visual acuity, reduce light sensitivity, blurred vision, and reduce or eliminate eye floaters.
It is a procedure that entails a thin needle insertion through the skin into the specific points in the body. It promotes the circulation of Qi (or chee), a vital life force within the body, and the balance of Yin and Yang (an explicit duality expressing an implicit unity).
Meridians are specific energy pathways that flow throughout the body. Acupuncture points are located along the meridians. Blocked energy and unbalanced meridians can lead to the disease.
Acupuncture treatment for the same disease in different patients may differ, depending on which meridian is out of the balance. Therefore, an acupuncture specialist will often choose several meridians to address in treatments.
According to the TCM, all internal organs nourish the eyes. However, within the eyes, several meridians have primary influence:
- Veins and arteries: heart
- Cornea and iris: liver
- Retina: kidneys and liver
Micro Acupuncture 48 is a specific acupuncture system used for many eye diseases, improving blood circulation and nourishment, improving detoxification of solid and liquid waste, reducing inflammation, and controlling ocular oxidative stress. The acupoints located on the hand, feet, and forehead are treated.
Chinese Herbs for Best Disease
We already know that the eyes are connected to internal organs, like the liver and kidneys. So the Qi must flow smoothly between the two. A disruption in their connection leads to vision problems.
A certified Chinese herbalist will use a customized combination of specific herbs specifically designed to strengthen vision. They come in the forms of dried or fresh herbs, teas, essences, extracts, powders, capsules, or tablets. Some common herbs and herbal mixtures may include:
- Gingko Biloba
- Grape seed extract
- Green tea
- Goji berries
All these herbs are rich in antioxidants, vitamins, and minerals, beneficial for eye health. Still, they have different properties which will address your condition in the best way.
Nutritional Supplements for Best Disease
Many eye-supportive supplements are already found in natural food resources, including leafy greens, eggs, meat, fish, fruits, and nuts.
- Lutein lowers the risk of macular degeneration.
- Omega-3 essential fatty acids found in fish are linked to the proper retinal function.
- Folic acid (a form of vitamin B) helps in maintaining the optical nerve function.
- Zinc strengthens retinal cells and prevents blindness from macular degeneration.
- Vitamin C is an antioxidant that reduces the risk of macular degeneration.
- Zeaxanthin acts as a macula protector from the harmful effects of the sun.
- Vitamin E is known to slow macular degeneration and cataract growth.
- Selenium is a mineral with antioxidant properties that shield cells from damage.