Best’s Disease

WHAT IS BEST DISEASE?

Best disease, or Vitelliform macular dystrophy, is a genetic eye disorder that can cause progressive vision loss. It was discovered in 1905 by Friedrich Best, a German ophthalmologist. The disease can be detected between ages 3 and 15 years old, although symptoms may not develop until later.


SIGNS OF BEST DISEASE

Best disease appears as a bright yellow fluid-filled sac, or cyst, under the macula. The cyst looks like a sunny-side-up egg. Vision may be normal or near normal at this stage. Eventually the sac bursts, and the fluid spreads throughout the macula.

Ophtalmoscopic View of Normal Retina
Ophtalmoscopic View of Yolk lesions of Best disease fundus

 Ref.

SYMPTOMS

The disease occurs in stages over a period of years. In early stages, there is no loss of vision. During later stages, the disease causes central vision loss in one or both eyes. Symptoms include blurred and distorted vision. Central vision may deteriorate to about 20/100 in later stages. Some people with Best disease never progress to later stages and may not have serious vision loss. Others may lose vision in one eye, but not the other.

                                                       

GENETICS

Best disease is genetically passed through families by the autosomal dominant pattern of inheritance. If one parent has Best disease and one does not, there is still a 50% chance that their children will inherit the disease. Children who do not develop the disease can’t pass it on to their children.  Ref.

Click here for explanation of Inheritance pattern

Additional information about Best Disease can be found here:

ss   ghr   RI   rnib

                                             

TREATMENT

Unfortunately there is no treatment for this eye condition at the moment. Although many advances are being made in identifying genes responsible for Best disease, this has not yet led to a treatment.

Additional information about treatment can be found here:
rnib

                                   

RESEARCH

Information about current research can be found here:
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HOW TO LIVE WITH BEST DISEASE 

Below are the links to the organizations providing disability care and support services to people with impaired vision.

Guidedogs   blca   wagb   bsa   bca   wabga           vis   VA   sa

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