Amsler Grid

The Amsler grid is a useful tool to detect vision problems resulting from damage to the macula (the central part of the retina).

Report any irregularity to your eye care professional immediately.

The grid does not replace having your macula tested by an eye care professional, particularly if you are over 50 yrs old or have any risk factors for macular degeneration.

Amsler Grid

How to do it

  1. Cover one eye, then focus on the dot in the centre.
  2. Do any of the lines look wavy, blurred or distorted?
  3. Are there any missing areas or dark areas in the grid?
  4. Don't forget to test
    both eyes.

What is Stargardt Disease?

Stargardt disease is a bilateral inherited retinal dystrophy usually affecting the central retina (macula) resulting in deteriorating central vision. Most cases are due to mutations in the ABCA4 gene. Although classical Stargardt disease is more limited to the macula, the range of presentations associated with mutations in the ABCA4 gene may also affect the peripheral retina, or even cause a more generalised retinitis pigmentosa. This presentation may vary among family members carrying the same two mutations. Fundus flavimaculatus is the name given to a variant of this disorder characterised by flecks in the peripheral retina.

Eye Structure
  

Who does it affect?

There is no predilection for any race or gender.  Males and females are affected equally, and the disease is common throughout many countries and ethnicities. Like most autosomal recessive diseases, Stargardt disease associated with the ABCA4 gene is more common in consanguineous relationships. Stargardt disease is the most common inherited disorder affecting central vision and the visual loss can have serious implications on quality of life across social, psychological and health domains.

What are the symptoms?

Symptoms typically begin in early adolescence with reduced vision that may progress to severe central vision loss.  However there is wide variability in age of onset and rate of progression.

Blurring of the central vision is usually the presenting symptom, and occasionally this may be associated with altered vision in the dark.

Is it inherited?

Stargardt disease is an autosomal recessive disorder. As we carry two copies of every gene, in a recessive disorder this means both copies that are inherited contain mistakes (or typos) and therefore neither function properly. An individual who carries only one copy  of the ABCA4 gene with a mistake, and the other copy normal, are usually  not affected at all.  The siblings of an individual with Stargardt disease have a 25% chance of being affected, although the offspring of an affected individual usually do not inherit the disease.

Autosomal recessive Stargardt disease is most commonly caused by mutations in the ABCA4 gene. The ABCA4 gene codes for a transporter protein, which pumps waste products out of the photoreceptor cells at the back of the eye, called the retina. If the pump is not working properly, or as well as it should, then these wastes accumulate, eventually damaging and killing the cells, no more of these cells can be made once they have died.

Some Stargardt disease is due to a single mutation in the ELOVL4 gene, is inherited in an autosomal dominant manner, meaning any offspring of an affected individual has a 50% chance of being affected.

 

How is it diagnosed?

Stargardt disease is diagnosed on the basis of history, examination, imaging of the retina with fundus autofluoresence and electrophysiological testing. Genetic testing can confirm the diagnosis. A variety of clinical presentations are presented in the accompanying images.

stargardt figure1Figure 1

 Figure 1. Right and left retinal images from an individual affected with Stargardt Diseae due to homozygous mutations in the ABCA4 gene. The central pale area involving the macula is atrophic, or scarred, with some pigment clumping in the right eye. 

 

stargardt figure2   Figure 2

 

Figure 2. Widefield retinal photos of individual with the fundus Flavimaculatus variant demonstrating white flecks in the mid retinal periphery, along with a maculopathy. This individual has 2 different ABCA4 mutations.
 

Figure 3. The images to the right show the fundus autofluoresence obtained from the same individual, centered on the macula. The dark areas are where retinal tissue is poorly functioning, and the bright white areas correspond to the flecks in the retina, and are likely to represent areas of the retina under stress.

stargardt figure3Figure 3

Are there any treatments?

Two clinical trials are currently underway. One includes gene replacement therapy of the altered ABCA4 gene, injected into the eye. This trial is called StarGen, and is currently in the safety and toxicity phase of research.

The other trial involves stem cell injections in to the eye, but is still in the early phases of research.

A multicentre project is currently underway to establish the natural history and progression of Stargardt disease, so that any intervention can be appropriately monitored and assessed.

What are future treatments?

Further treatments include an oral medication designed to stop the waste products accumulating in the presence of ABCA4 mutations.  Other oral medications and gene related therapies are under development

Living with Stargardt Disease/support

The advice given for MD applies to Stargardt disease. A healthy lifestyle, good nutrition and protection form ultraviolet sunlight is the most useful advice at this time.

Retina New Zealand  is also a good patient support organisation with a website, regular newsletters, and up-to-date research news. Individuals with significantly impaired vision may qualify for registration with the Blind Foundation.

  

Learn more about Macular Degeneration

Find out how MD affects the lives of real New Zealanders. Watch the video, learn about the risks and see how MD is a growing problem in our society.

 

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Video  

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Map: Where is MD in NZ?

Age-related Macular Degeneration (AMD) is a growing problem in NZ. Total prevalence is predicted to be 206,908 in 2018.

View more

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Getting tested is simple

There is a quick and easy way to tell if MD affects your vision.  Click on the link below to see if you have the common warning signs.

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 MDNZ Website 3steps

What you need to know

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What's the chance?

In New Zealand MD affects 1 in 7 people over the age of 50 years

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Smoking

Smokers have 3 times the risk of developing MD and tend to develop MD 10 years earlier than non-smokers

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Is it getting worse?

It is estimated the number of people with MD will increase by 70% by 2030

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More common than you think

Age related Macular Degeneration is the most common cause of blindness

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You need to know!

Of those most at risk (50+) 67% have heard of MD and only 48% understand that it is an eye disorder. *Galaxy Poll March 2014

People with a family history of MD have a 50% chance of inheriting the genetic predisposition of developing MD.

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What if I don't have treatment?

Untreated, the majority of people with wet MD become functionally blind within 2 years

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