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Eye and hearing diseases

Stargardt disease

An inherited disease that affects the macula, the central part of the eye that allows sharp vision. It usually begins in childhood or young adulthood. Central vision slowly gets worse.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Eye and hearing diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

In the middle of the retina there is a small area called the macula. Reading and recognizing faces depend on this area. In Stargardt disease, a yellowish, fatty waste builds up here. Over time, this build-up damages the light cells and the cells die.

Which symptoms can occur?

Symptoms usually begin in late childhood or at a young age. How fast vision is lost varies from person to person.

  • Slowly increasing loss of central vision in both eyes (common)
  • Gray, black or hazy spots in the middle of the field of vision
  • Sensitivity to light
  • Eyes slow to adjust when going from light to dark
  • Problems with color vision (sometimes)
  • Loss of side vision (sometimes)

How is it diagnosed?

The eye doctor widens the pupil and looks for yellowish spots in the macula. Pictures of the retina are taken, and OCT and ERG tests may be done. A color vision test may also be requested. A genetic test confirms the diagnosis.

Treatment and care

There is no approved treatment at the moment. Research on gene therapy and medicines is ongoing. For people with low vision, aids and vision training help them make the best use of their remaining sight. A hat and sunglasses are recommended outdoors. Supplements containing vitamin A should not go over the recommended daily amount. Staying away from smoking and cigarette smoke may be helpful. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is usually inherited recessively. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. Carrier mothers and fathers usually have no symptoms. This chance can be higher when parents are related by blood. In a less common type, dominant inheritance is seen. Genetic counselling explains the risk for the family.

Source: MedlinePlus Genetics: Stargardt macular degeneration · National Eye Institute (NIH): Stargardt Disease · Orphanet: Stargardt disease (ORPHA:827)

Key facts

How common is it?
Prevalence: 1-5 per 10 000 (Europe)
When does it usually start?
Adolescence, Adulthood, Childhood, Older age
Gene(s) involved
ABCA4, ELOVL4, PROM1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Stargardt

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 22 active interventional studies for this disease. 14 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Eye and hearing diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:827

No separate ICD-11 code; WHO classifies this disease under: 9B70

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.