Vitelliform Macular Dystrophy

Vitelliform macular dystrophy is a genetic eye disease.

In this genetic eye disease, a fatty yellow pigment (lipofuscin) builds up in the cells under the macula. Gradually these deposits accumulate and damage the photoreceptor cells that are critical for sharp, straight ahead vision.

Symptoms are

1) loss of central vision, and

2) blurry or distorted vision.

This accumulation of lipofuscin can be detected during an eye exam.

There are two forms:

1) The childhood, early-onset form known as Best Disease.

2) The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time.

The two genes, BEST1 and PRPH2, develop mutations which then cause this disease to develop. Obviously, BEST1 mutations are responsible for Best disease. Only in some cases does it cause the adult-onset form. Changes in the PRPH2 gene can also cause the adult-onset form.

Surprisingly, in less than a quarter of all people with this type of macular dystrophy, have these mutated genes been found. In most cases, the cause of the adult-onset form is unknown.

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