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Best Disease

What is Best Disease?

Best disease, also known as vitelliform macular degeneration, is a painless disease affecting the macula or the small part behind the retina of the eye. It is one of the causes of juvenile macular degeneration. Best disease, which is an inherited disease, is usually present in your eye at the time of birth. However, it starts affecting your eyes when you are 3 to 15 years old, and difficulties with vision are noticed much later in life, usually after 40 years.

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What Happens When You Have Best Disease?

Best disease is an inherited disease and it is caused by a mutated BEST1(VDM2) gene, which produces a protein called Bestrophin-1. The disease involves a build-up of a yellow pigment in the cells beneath the macula, which increases over a period to affect the cone cells in the macula. Since the cone cells are responsible for detailed vision and color perception, people with this disease have problems with their central vision.

What Are The Symptoms Of Best Disease?

Best disease causes varied symptoms in different people. The most commonly seen symptoms in one or both eyes are:

  • Blurred vision when trying to see detail like reading small print
  • Wavy look of straight lines
  • Blurred central vision

This disease, like others macular degeneration conditions, does not usually cause changes in the peripheral vision.If you notice any of these symptoms, talk to your optometrist for further diagnosis.

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How Does An Optometrist Detect Best Disease?

Though Best Disease starts affecting the retina in adolescence, it doesn’t usually cause differences in vision until later in life. Best Disease may be detected

  • During a routine eye exam
  • During screening programs for people who have it in the family
  • During retinal examination when a child finds a little problem in vision

What Is The Diagnostic Process For Best Disease?

If the optometrist doubts the presence of Best disease, any of the following tests may be prescribed for a confirmation:

  • Electro-oculogram(EOG)
  • Electro-retinogram(ERG)
  • Optical Coherence Tomography (OCT)
  • Fluorescence angiogram(FA)
  • Fundus Autofluorescence(FAF)
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Stages of Best Disease

There are 5 stages of the disease.

Stage 1 of Best Disease

The macula is healthy and there are no changes in the inspection. There may be very slight changes beneath the macula. There is no change in vision.

Stage 2 of Best Disease

Also called the vitelliform stage, stage two of Best disease involves the formation of a blister in the macula, that looks like an egg yolk during eye examination. This stage usually comes when the patient is 3 to 15 years old. The changes seen here are only upon examination – vision still remains normal.

Stage 3 of Best Disease

Known as the pseudohypopynon stage, this is usually seen in the teenage years. This stage sees the blister formed in the previous stage to advance to a layer beneath the retina. Due to this, a cyst can be seen under the retina. There normally is still little or no change in the vision.

Stage 4 of Best Disease

 Stage four or the vitelliruptive stage marks the rupture of the cyst, which causes damage to the cells in the layers of the retina. This is the stage when the patient may first begin to have noticeable trouble with vision like difficulty in reading small fonts and seeing straight lines as wavy.

Stage 5 of Best Disease

This is the final stage of Best disease. Called the atrophic stage, this stage sees the disappearance of the yellow substance that caused the cysts. Though it disappears, it leaves the damaged cells and scarring on your retina. Vision is most affected at this level and you may find it difficult to see detail and read.

Choroidal neovascularization

 In some people, this stage develops during the atrophic stage. Here, the eye creates new blood vessels as an attempt to fix the damage caused by the disease. However, this causes even more damage to the vision. This stage is seen only in a few people.

How Is Best Disease Treated

Like with other diseases of this kind, Best disease still has no treatment. But research in Gene therapy is expected to find a solution in the future. Meanwhile a low vision optometrist will help you maximize your remaining vision by providing you with specific low vision aids such as escoop glasses, low vision telescopes and bioptics, computer programs such as zoomtext, and digital magnifiers. Visiting a low vision optometrist is critical for the well being of a patient. In many cases vision loss can trigger feelings of depression and anxiety, a low vision optometrist can show the patient that there are still options and that they may be able to drive, read, paint, see faces, travel and much more with their visual impairment.

When our Low Vision Optometrists performs an eye exam for Glaucoma, he will be looking for a loss of peripheral vision and loss in visual acuity.

For a free low vision phone consultation with Dr. Scoenbart, call

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