Stargardt disease

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Stargardt disease
OCT image of the retina
Synonyms	Stargardt macular dystrophy, juvenile macular degeneration
Pronounce
Specialty	Ophthalmology
Symptoms	Central vision loss, blurry vision, color vision loss
Complications	N/A
Onset	Typically in childhood or adolescence
Duration	Chronic
Types	N/A
Causes	Genetic disorder
Risks
Diagnosis	Eye examination, genetic testing
Differential diagnosis	Age-related macular degeneration, Best disease, Cone-rod dystrophy
Prevention	N/A
Treatment	No cure, low vision aids, genetic counseling
Medication
Prognosis	N/A
Frequency	1 in 8,000 to 10,000 people
Deaths

Stargardt disease, also known as Stargardt macular dystrophy, is an inherited disorder of the retina that causes progressive vision loss. It is the most common form of juvenile macular degeneration. The disease typically manifests in childhood or adolescence, but it can also appear in adulthood.

Genetics

Stargardt disease is primarily caused by mutations in the ABCA4 gene, which is responsible for the production of a protein involved in the visual cycle. This protein helps transport energy molecules within the photoreceptor cells of the retina. Mutations in the ABCA4 gene lead to the accumulation of toxic byproducts, which damage the photoreceptor cells and the retinal pigment epithelium (RPE).

Symptoms

The main symptom of Stargardt disease is a progressive loss of central vision, which is essential for tasks such as reading, driving, and recognizing faces. Other symptoms may include:

• Difficulty adapting to low light conditions (night blindness)
• Blurred vision
• Distorted vision (metamorphopsia)
• Color vision abnormalities

Diagnosis

Diagnosis of Stargardt disease typically involves a comprehensive eye examination, including:

• Visual acuity test
• Fundus photography
• Fluorescein angiography
• Optical coherence tomography (OCT)
• Electroretinography (ERG)
• Genetic testing to identify mutations in the ABCA4 gene

Treatment

Currently, there is no cure for Stargardt disease. However, several approaches are being researched, including:

• Gene therapy
• Stem cell therapy
• Pharmacological treatments to slow the progression of the disease

Patients are often advised to wear sunglasses to protect their eyes from ultraviolet light and to avoid vitamin A supplements, which can exacerbate the condition.

Prognosis

The progression of Stargardt disease varies among individuals. While some may experience rapid vision loss, others may retain useful vision for many years. Peripheral vision is usually preserved, allowing patients to maintain some degree of independence.

See also

• Macular degeneration
• Retinitis pigmentosa
• Leber congenital amaurosis
• Best disease
• Cone-rod dystrophy

See Also

• Retina
• Photoreceptor cells
• Genetic disorder
• Visual cycle