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[edit | edit source]

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[edit | edit source]

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:

Diagnosis[edit | edit source]

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

Treatment[edit | edit source]

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[edit | edit source]

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[edit | edit source]

See Also[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

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Contributors: Prab R. Tumpati, MD