Stargardt disease

What is Stargardt disease?

Stargardt disease (also know as Stargardt macular dystrophy or Fundus Flavimaculatus) is the most common inherited macular dystrophy. It has an autosomal recessive mode of inheritance.

When is Stargardt disease normally diagnosed?

Most people with Stargardt disease have slowly progressive central visual loss that begins in early teenage years. Stargardt disease may also present in adult life when the visual loss may be milder.

What causes Stargardt disease?

The faulty gene that causes Stargardt disease has been identified and is called ABCA4. This gene is involved in recycling vitamin A in the retina. Vitamin A is an essential component of the light detecting ability of the retina.

An on-going gene therapy trial is being conducted in France and the USA to determine the safey and effectiveness of gene replacement in this condition (May 2013).

An on-going stem cell trial is being conducted to determine the safety and effectiveness of human embryonic stem cell derived retinal pigment epithial cells in patients with advanced Stargardt disease (May 2013).

Pharmacological trials are anticipated in the next five years.

Where can I go to find out more about Stargardt disease?

Further detailed information on Stargardt Disease is available from:
www.blindness.org/Stargardt/

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