Stargardt’s disease is the most common form of hereditary juvenile macular degeneration. The disease usually affects both eyes, starts around childhood, is progressive and mainly affects visual acuity in patients. An abnormality of a gene is the cause of this eye condition. Scientists are still working on a treatment for Stargardt’s disease. Stargardt’s eye disease was first described in medical literature by German ophthalmologist Karl Stargardt in 1909.
- Epidemiology Stargardt’s disease
- Symptoms of eye disease
- Course of eye disease
- Prognosis of form of macular degeneration
- Diagnosis and examinations
- Heredity
- Therapy
- Contact group
- Centers of expertise
Epidemiology Stargardt’s disease
The prevalence is estimated at 1 in 10,000 people. Just as many men as women have the eye disease.
Symptoms of eye disease
Patients suffer from color blindness, night blindness, reduced visual acuity and distorted images (metamorphopsia). In addition, there is also an abnormal spot in the central visual field.
Course of eye disease
Stargardt’s disease mainly affects the cones (light-sensitive cells) in the macula (central part of the retina). The photoreceptors ensure visual acuity, color vision, recognizing faces and reading. A patient therefore experiences problems with this. The retina is located behind the eye, so the disease is not visible from the outside.
Prognosis of type of macular degeneration
Never completely blind
Since the course of the disease manifests itself differently in everyone, a prognosis is difficult. Visual acuity decreases if the cones in the macula are seriously damaged. Patients with Stargardt’s disease usually have a good visual field, but their vision is much less clear. In principle, patients never become completely blind.
Age
In younger patients (< 20 years) with this retinal disease, the prognosis is less good as they usually experience a sharp decline in visual acuity within ten years after diagnosis, resulting in a visual acuity of less than 10%. In slightly older patients (> 20 years), this deterioration occurs within an average of twenty years, giving them a slightly better prognosis. However, visual acuity in almost everyone is less than 50% in both eyes before the age of 50.
Diagnosis and examinations
The ophthalmologist also uses a fundoscopy, which is the medical term for “ophthalmoscope examination”) so that he can recognize the following signs of the disease:
Macula
Retinal thinning in advanced cases. The cones and surrounding structures have died there.
Retina
In patients suffering from Stargardt’s disease, there are typical white-yellow spots on the retina; these are abnormal waste accumulations. The abnormal gene has a protein deficiency, which means it does not remove the substance all-trans-retinal and other breakdown products from the rods and cones. That is why patients have characteristic white-yellow spots in the retina.
However, the ophthalmologist does not always detect the eye disease immediately. He maps the disease by means of a fluorescent angiogram. In addition, he usually performs an electroretinography.
Heredity
An abnormality in the ABCA4 gene is the cause of Stargardt disease; the gene is responsible for metabolism in the retina. Inheritance is autosomal recessive. This means that it is an abnormality in the gene on one of the body-determining chromosomes that is only expressed if it is present twice. Both parents must therefore be carriers of the abnormal gene. Every child of parents with an affected gene has a 25% chance of inheriting both abnormal genes and therefore developing the disease. A clinical geneticist provides more information about the inheritance of this condition. He conducts a DNA test to detect mutations in a gene. The DNA test is done via a blood test.
Therapy
No treatment has yet been found for Stargardt’s disease. The patient is advised to visit an ophthalmologist regularly. In this way, the ophthalmologist can better monitor the progress of the disease. Reading aids and mobility aids do offer relief. Other glasses also help, possibly in combination with tinted lenses and/or a cap or visor. Gene therapy may be possible in the future; The doctor inserts a healthy piece of DNA into the eye to solve the problem with the proteins. However, for the time being this method is not yet applicable to humans.
Contact group
The Macula Association is active in the Netherlands.
Macula Association
PO Box 20343500 GA Utrecht
- Telephone: 030-2980707
- Available: Monday to Thursday from 10 a.m. to 3:30 p.m
- E-mail: [email protected]
For information about gifts, donations, etc. to stimulate scientific research and information activities in the field of macular degeneration, please contact:
Stichting MaculaFonds
PO Box 24103500 GK Utrecht
- Telephone: 030-2966999
- E-mail: [email protected]
- Website: http://maculavereniging.nl
Centers of expertise
There are three known expertise centers for Stargardt’s disease in the Netherlands:
- AMC: Ophthalmogenetics – hereditary eye disorders
- Erasmus MC: Pediatric ophthalmology
- Radboud UMC: Ophthalmology
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