Learn more about Stargardt Disease, including The Symptoms, The Causes, and The Treatments.
Stargardt disease is also referred to as juvenile macular degeneration, juvenile macular dystrophy or stargardt macular dystrophy. It is an inherited condition that can appear in childhood or adolescence, Stargardt disease affects the macula, your central vision, where you see colour and fine detail. The photoreceptors (light sensitive receptors) in the macula become permanently damaged, causing the loss of your central vision. Your ability to see colour, fine detail, recognise faces, read and see clearly, becomes severely impaired. Patients with Stargardt disease usually have normal peripheral vision.
• Unclear blurry vision
• Straight edges appear wavy or distorted
• Distorted vision
• Difficulty in reading
• Difficulty in recognising faces
• Poor colour vision
• Blank or patchy central vision
• Use begin to turn your head to see better
• Stargardt disease is inherited and caused by faulty genes.
• In Stargardt disease, the faulty gene causes a buildup waste product called lipofuscin (they appear as yellow flecks) to accumulate around the macula, which damages the photoreceptors; this leads to the loss of your central vision.
• As the disease progresses, an oval lesion (bull’s eye configuration) can be seen on the macula.
• If Stargardt disease is caused by a mutation in the ELOVL4 gene, it is inherited in an autosomal dominant pattern. This means one of your parents has passed the disease onto you and usually they will also have stargardt disease.
• Most cases of the stargardt disease are caused by a mutation in the ABCA4 gene; it is inherited as a recessive condition. This is where both parents are carriers of the faulty gene and pass it on to their child, the child then gets stargardt disease. Carriers of the recessive gene usually do not suffer from stargardt disease.
There is sadly no treatment for stargardt disease, however there is ongoing research in gene therapy and stem cells.
• Research has shown that exposure to UV light in the eyes may increase further retina & macula damage. Wearing wrap around sunglasses will help protect your eyes from UV light and blue light. Sunglasses should have 100% UV protection and polarised lenses in your sunglasses will also help protect your eyes from glare.
• You may be referred to a low vision clinic if your sight is significantly affected, a low vision clinic will give you practical advice and magnifying aids to help you see better
• Some hospital eye services have an ECLO (Eye Clinic Liaison Officer) who can provide further support
• Check with your ophthalmologist if you can be registered as sight impaired or severely sight impaired. Registration can help with financial concessions and expert practical help
• Contacting the RNIB or macular society for further support, visual aids and practical advice
• Gene therapy research is looking into injecting the ‘normal’ gene into the diseased retinal cells, to replace the faulty gene and stop any further progression of vision loss.
• Stem cell research is looking into developing stem cells that can replicate and replace damaged retinal cells in stargardt disease.
• Research is also taking place with medication that can reduce the amount of vitamin A produced by the retinal cells affected by stargardt disease. Patients with stargardt disease are unable to remove vitamin A from the macula.
Children will need to be reviewed by different governing bodies, which will produce a statement on how to best help the child learning & development. Please click the link for further information.
RNIB, 0303 123 9999, firstname.lastname@example.org, or visit the RNIB at 105 Judd St, London WC1H 9NE
Macular Society: PO Box 1870, Andover, SP10 9AD. Tel: 0300 3030 111 Web: www.macularsociety.org
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