Stargardt’s disease also known as Stargardt macular dystrophy

Stargardt’s disease also known as Stargardt macular dystrophy

Stargardt’s disease is an inherited macula condition affecting central vision. It typically starts in childhood or early adulthood and causes progressive vision loss.

Stargardt’s is usually inherited when both parents carry a mutation on the ABCA4 gene. The parents will rarely have the condition as it is recessive. If both parents are a carrier each child has a 25% chance of having Stargardt’s.

Stargardt's disease

Another form of Stargardt’s is an autosomal dominant condition, caused by a mutation on the ELOVL4 gene and has a 50% likelihood of being passed on to a child from a parent with the disease. Inheritance of Stargardt’s is unaffected by the child’s gender.

Stargardts disease symptoms explained

In early stages of the condition visual acuity is usually good but people may struggle with adaption between light and dark surroundings. Symptoms begin to show within the first 20 years of a person’s life. As the condition develops other symptoms will start to show including reduced vision, distorted vision, difficulty recognising familiar faces and in late stages colour vision may also be lost. Peripheral vision is usually unaffected. The progression of vision loss is variable but usually develops quicker the younger diagnosis is made.

How Stargardt’s disease is carried out

Diagnosis of the disease is carried out by an ophthalmologist by examining the retina using drops to dilate the pupil. The ophthalmologist will view the macula and look for characteristic drusen, these are an abnormal build-up of lipofuscin deposits; a normal retinal by-product. Other tests an ophthalmologist can use to help diagnosis are:

  • colour testing.
  • visual field testing.
  • OCT scan (a 3D scan of the eye).
  • ERG scans.
  • genetic testing.

Unfortunately, there is no treatment for Stargardt’s currently; however, there is a lot of research now looking into stem cell treatments, and drugs that target vitamin A causing the lipofuscin deposits.

You can still live a good life if diagnosed with Stargardt’s disease

Most people with Stargradts can live an independent life, as they retain peripheral vision in most cases. Current advice to help slow down the progression of Stargardt’s disease includes:

  • not smoking
  • eating plenty of leafy green vegetables as part of a balanced diet
  • lutein and omega 3 supplements
  • avoiding intake of vitamin A.

Wearing sunglasses with full UV protection can help to reduce additional damage to the eye caused by the sun. There is also lots of support available from local low vision clinics, they can help to advise work and schools about what adjustments need to be made i.e. large print books. They can also help to make adjustments at home with lighting and gadgets to make daily tasks easier.

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