Skip to main content
Macular Disease Foundation Australia
  • My Cart
  • Text Only
  • Listen
  • Print Page
  • Language
    • English
    • Arabic
    • Chinese
    • Greek
    • Italian
    • Portuguese
    • Spanish
    • Vietnamese
  • Search form

Check My Macula Check My Macula Join the Community Join the Community Order Free Information Order Free Information Call our helpline at 1800111709 Helpline
1800 111 709
Donate Donate
  • Home
  • Macular Disease
    • Macular Degeneration
      • About Macular Degeneration
      • What Happens?
      • Risk Factors
      • Prevention
      • Detection
      • Diagnosis
      • Treatment
      • Charles Bonnet Syndrome
      • Cataracts and Macular Degeneration
      • Frequently Asked Questions
      • How The Eye Works
    • Diabetic Retinopathy
      • About Diabetic Retinopathy
      • About Diabetes
      • What Happens?
      • Risk Factors
      • Prevention
      • Detection
      • Diagnosis
      • Treatment
      • Frequently Asked Questions
    • Low Vision
      • Living with Low Vision
      • Carer and Family
      • Aids and Technology
      • Slips, Trips and Falls
      • Legal blindness
    • Other Macular Diseases
      • Best Disease
      • Macular Hole
      • Macular Pucker
      • Macular Telangiectasia
      • Myopic Macular Degeneration
      • Retinal Detachment
      • Retinitis Pigmentosa
      • Retinal Vein Occlusion
      • Stargardt Disease
      • Central Serous Chorioretinopathy (CSC)
      • Vitreomacular Traction Syndrome
    • Visit Eye Health Professional
      • Eye Injection Costs and Rebates
    • Macular Disease
      • Anti-VEGF injections for macular disease
  • Research
    • Research Grants Program
      • Research Grants Awarded
      • Research Grant Recipients
      • Apply for the 2021 MDFA Research Grants Program
      • Research Grants panel
    • Support Research
    • Understanding Research
    • Latest Research
      • Research News
      • MDFA Research
      • Macular Diseases
      • Social Impact
    • Research Updates
      • Annual Research Update
      • Weekly Research Updates for Professionals
    • Research studies
  • Resources
    • Macula Month 2020
      • Order Macula Month resources
    • Order Publications and Resources
    • Find a Healthcare Provider
    • Audio and Video
      • Audio
      • See My World podcast
      • Patient Voices
      • Videos
    • Aged care resources
  • News & Events
    • Newsletters
      • Vision Voice Newsletters
      • Subscribe to Newsletters
      • Archive
    • News
      • 2020 news
      • 2019 News
      • 2018 News
      • 2017 News
      • 2016 News
      • Archived News
    • Events & Activities
      • Community Events
      • Education Sessions
      • Events Calendar
    • Media Centre
      • Media Releases
  • Foundation
    • Organisation
      • History
      • Objectives
      • Guiding Principles
      • Annual Reports
      • Whistleblower Policy
      • Financial Statements
    • People
      • Patron
      • State Patrons / Representatives
      • Ambassadors
      • Foundation Board
      • Committees
      • State Chairs
      • National Research Advisor
    • Our Work
      • Awareness
      • Education
      • Support Services
      • Research
      • Representation
    • Support Us
      • Donate
      • Bequests
      • Fundraise
      • Volunteer
      • Friends of the Foundation
      • Sponsors and Supporters
      • Professional Friends
    • Contact Us
Listen
Macular Disease Foundation Australia
Check My Macula Macula Join the Community Join Us Order Free Information Free Info Donate Donate
Menu
  • My Cart
    • Language
      • English
      • Arabic
      • Chinese
      • Greek
      • Italian
      • Portuguese
      • Spanish
      • Vietnamese
    • Home
    • Macular Disease
      • Macular Degeneration
        • About Macular Degeneration
        • What Happens?
        • Risk Factors
        • Prevention
        • Detection
        • Diagnosis
        • Treatment
        • Charles Bonnet Syndrome
        • Cataracts and Macular Degeneration
        • Frequently Asked Questions
        • How The Eye Works
      • Diabetic Retinopathy
        • About Diabetic Retinopathy
        • About Diabetes
        • What Happens?
        • Risk Factors
        • Prevention
        • Detection
        • Diagnosis
        • Treatment
        • Frequently Asked Questions
      • Low Vision
        • Living with Low Vision
        • Carer and Family
        • Aids and Technology
        • Slips, Trips and Falls
        • Legal blindness
      • Other Macular Diseases
        • Best Disease
        • Macular Hole
        • Macular Pucker
        • Macular Telangiectasia
        • Myopic Macular Degeneration
        • Retinal Detachment
        • Retinitis Pigmentosa
        • Retinal Vein Occlusion
        • Stargardt Disease
        • Central Serous Chorioretinopathy (CSC)
        • Vitreomacular Traction Syndrome
      • Visit Eye Health Professional
        • Eye Injection Costs and Rebates
      • Macular Disease
        • Anti-VEGF injections for macular disease
    • Research
      • Research Grants Program
        • Research Grants Awarded
        • Research Grant Recipients
        • Apply for the 2021 MDFA Research Grants Program
        • Research Grants panel
      • Support Research
      • Understanding Research
      • Latest Research
        • Research News
        • MDFA Research
        • Macular Diseases
        • Social Impact
      • Research Updates
        • Annual Research Update
        • Weekly Research Updates for Professionals
      • Research studies
    • Resources
      • Macula Month 2020
        • Order Macula Month resources
      • Order Publications and Resources
      • Find a Healthcare Provider
      • Audio and Video
        • Audio
        • See My World podcast
        • Patient Voices
        • Videos
      • Aged care resources
    • News & Events
      • Newsletters
        • Vision Voice Newsletters
        • Subscribe to Newsletters
        • Archive
      • News
        • 2020 news
        • 2019 News
        • 2018 News
        • 2017 News
        • 2016 News
        • Archived News
      • Events & Activities
        • Community Events
        • Education Sessions
        • Events Calendar
      • Media Centre
        • Media Releases
    • Foundation
      • Organisation
        • History
        • Objectives
        • Guiding Principles
        • Annual Reports
        • Whistleblower Policy
        • Financial Statements
      • People
        • Patron
        • State Patrons / Representatives
        • Ambassadors
        • Foundation Board
        • Committees
        • State Chairs
        • National Research Advisor
      • Our Work
        • Awareness
        • Education
        • Support Services
        • Research
        • Representation
      • Support Us
        • Donate
        • Bequests
        • Fundraise
        • Volunteer
        • Friends of the Foundation
        • Sponsors and Supporters
        • Professional Friends
      • Contact Us
  • Home
  • Macular Disease
  • Other Macular Diseases
  • Stargardt Disease
Back

Macular Disease

  • Macular Degeneration
    • About Macular Degeneration
      • Check My Macula
        • Check My Macula sign up
    • What Happens?
    • Risk Factors
    • Prevention
      • Lifestyle
      • Nutrition
        • Nutrient Content of Foods
      • Supplements
    • Detection
      • Early Signs
      • Changes to Vision
      • Professional Testing
      • Amsler Grid
    • Diagnosis
    • Treatment
      • Early and Intermediate Macular Degeneration
      • Wet Macular Degeneration
      • Dry Macular Degeneration
    • Charles Bonnet Syndrome
    • Cataracts and Macular Degeneration
    • Frequently Asked Questions
    • How The Eye Works
  • Diabetic Retinopathy
    • About Diabetic Retinopathy
      • How the Eye Works
    • About Diabetes
      • Diabetes and the Eye
    • What Happens?
    • Risk Factors
    • Prevention
    • Detection
      • Testing
    • Diagnosis
    • Treatment
      • Diabetes Care Team
    • Frequently Asked Questions
  • Low Vision
    • Living with Low Vision
      • Causes
      • Impact
      • Challenges
      • Just Diagnosed
      • Maintaining Independence
        • Reading
        • Driving
        • Lifestyle
      • Low Vision Assessment
        • Visiting a Low Vision Service Provider
      • Coping Strategies
      • Depression
      • Charles Bonnet Syndrome
    • Carer and Family
      • Guide for Care
      • Becoming a Carer
      • Care Plan
      • Support Team
      • Effective Communication
      • Guiding
      • Caring for the Carer
      • Entitlements
      • Impact of Caring
    • Aids and Technology
      • Ten Step Action Plan
      • Living Aids
        • Lighting
        • Reading Aids
        • Optical Magnifiers
        • Spectacles
        • Organisation
        • Writing Aids
        • Talking Aids
        • Leisure
      • Mobility Aids
        • Guide Dogs
        • Canes
        • Electronic Mobility Aids
      • Technology
        • Mobile Phones
        • Television and Radio
        • Audio Technology
          • Computers and Software
          • Electronic Magnifiers
        • Subsidy Programs
      • Slips, Trips and Falls
        • Reducing Risk
          • Around the Home
          • In the Community
          • Your Health
            • Mobility and Strength
            • Medicines
          • Mobility Training
        • Falling
          • Why We Fall
          • Planning For Help
          • After A Fall
          • Fear of Falling
      • Legal blindness
    • Other Macular Diseases
      • Best Disease
      • Macular Hole
      • Macular Pucker
      • Macular Telangiectasia
      • Myopic Macular Degeneration
      • Retinal Detachment
      • Retinitis Pigmentosa
      • Retinal Vein Occlusion
      • Stargardt Disease
      • Central Serous Chorioretinopathy (CSC)
      • Vitreomacular Traction Syndrome
    • Visit Eye Health Professional
      • Eye Injection Costs and Rebates
    • Macular Disease
      • Anti-VEGF injections for macular disease

    Stargardt Disease

     
    Stargardt disease (also called Stargardt dystrophy or fundus flavimaculatus) is a genetic eye disease, and the most common childhood (juvenile) macular condition. It is caused by over 1000 different types of mutations (faults) in a single gene and affects about 1 in 10,000 people.
     
    It usually first appears between the ages of 10 to 20, although visual impairment may not be apparent until as late as 40 to 50 years of age in the late-onset forms of the disease.
     
    Stargardt disease affects the function of the macula (central part of the retina), leading to problems with detailed central vision and colour perception, and in more severe types may also affect side (peripheral) vision and night vision. 
     

    The genetic cause of Stargardt disease

    Stargardt disease is caused by a faulty (mutated) gene. Genes are a set of instructions on how the body should develop. We all inherit two sets of genes, one set from each of our parents, and we each pass on one of those sets of genes to our children. These sets of genes 'lie' in pairs (one from each parent) and they determine our traits - the many things which make us individuals, such as hair or eye colour, or whether we get certain genetic conditions. 
     
    The most common pattern of inheritance of Stargardt disease is autosomal recessive. This means that when two carriers of this faulty gene have a child, there is a 1 in 4 (25%) chance of the child having Stargardt disease. If an individual with Stargardt disease has a child with a partner who is a carrier, the child would have a 1 in 2 (50%) chance of having the disease. The most common gene associated with Stargardt disease is called ABCA4.
     
    Special tests are available to determine which mutation and gene is causing the disease in many cases. Blood or saliva samples from both parents or one or more siblings are also necessary to confirm the diagnosis. Genetic testing to confirm the diagnosis as well as genetic counselling services to help better understand and cope with the condition are available in most states across Australia. 
     
    People with Stargardt disease may also wish to register with the Australian Inherited Retinal Disease Register and DNA Bank, located at Sir Charles Gairdner Hospital in Perth. Through this national registry, researchers can gain more insight into the prevalence and varied presentation of Stargardt disease across Australia and identify suitable patients when new treatments become available. Call (08) 6457 2866 for more information.
     

    Changes to the eye with Stargardt disease

    In Stargardt disease, a waste product called lipofuscin slowly builds up in the retinal pigment epithelium (RPE), a special layer of the retina. The cells of the RPE normally clear away waste products like lipofuscin, however in someone with Stargardt disease, the ‘faulty’ (mutated) gene gives incorrect instructions which prevent the removal of these waste products. The waste products gradually build up, damaging the cells in the macula and sometimes in the rest of the retina. 
     

    Effect on vision with Stargardt disease

    Stargardt disease affects the macula, making central vision unclear and sometimes distorted or blurred. As the disease progresses, a dark patch may appear in the centre of vision which often enlarges slowly over several decades. In some individuals, this can eventually extend out to the periphery and affect side vision, but for the majority of people, side vision is not affected. Most people with vision loss from Stargardt disease can manage to move about independently and use their side vision to view objects. Many people with Stargardt disease are able to manage very well with visual aids and adaptive technologies.
     
    Stargardt disease can also cause problems such as glare and difficulties adapting to changing light conditions. 
     
    In rare cases, Stargardt disease can be complicated by new, leaky blood vessels forming under the retina (neovascularisation), leading to sudden further loss of central vision. 
     

    Treatment

    There is currently no cure for Stargardt disease. Symptoms of light sensitivity can be reduced by wearing sunglasses and a wide brimmed hat. 
     
    For rare cases where Stargardt disease is complicated by new, leaky blood vessels forming under the retina, treatment with anti-VEGF injections into the eye can help stabilise and maintain best functional vision for as long as possible.
     
    In general, the same dietary recommendations that are made for age-related form of macular degeneration (AMD) can apply to people with Stargardt disease. Supplements based on the Age-Related Eye Disease Studies (AREDS) are not indicated for people with Stargardt disease, as these are only for people with certain stages of AMD. 
     

    Future developments

    Significant research is being conducted to understand the different genetic changes (mutations) associated with the disease. The trigger for the onset of the disease and the factors that alter the rate of progression during the lifetime of an individual with Stargardt disease are also being investigated. 
     
    Gene therapies are being developed to treat genetic eye conditions such as Stargardt disease, which work by delivering a ‘normal’ copy of the faulty gene to the retina, which takes over the function of the defective gene. In addition, a substantial amount of research is taking place using human stem cells to better understand how the disease develops, screen or test new drugs that can reverse the abnormal processing of the gene, and to replace damaged cells in the retina.
     

    Review the stargardt's disease fact sheet

    Order the fact sheet here

    Macular Disease Foundation Australia has developed a comprehensive range of publications on macular degeneration, diabetic eye disease and other macular diseases.

    You can order resources here.

    Subscribe to the Foundation's newsletter here.

    Find out about free education sessions coming up here.

    You can also contact the National Helpline by calling 1800 111 709.

    Managing vision loss
    When managing vision loss, a key priority is maintaining quality of life and independence. Contacting a low vision organisation can be helpful as they can work with you to assess your individual needs and determine which aids and technologies can help. There are many excellent solutions to help you live well with low vision.
     
    Contact Macular Disease Foundation Australia to discuss your low vision needs and to receive free information on low vision. Telephone the Helpline: 1800 111 709.
     
    - See more at: /content/retinal-detachment#sthash.RjRIGmEv.dpuf

     

    Share this article
    Select Your Type?
     
     
     
    • Home
    • Macular Disease
    • Research
    • Resources
    • News & Events
    • Foundation

    Contact Us

    1800 111 709
    info@mdfoundation.com.au
    Suite 902, Level 9, 447 Kent Street, Sydney 2000

    Follow Us

    acnc_logo_reverse.png


    Helpline 1800 111 709

    Donate

    Macular Disease Foundation Australia ABN 52096255177
    • Privacy Policy
    • Site Map
    • Terms & Conditions
    • Disclaimer