glaucoma Marbella
glaucoma Marbella

Stargardt disease

Enfermedad de Stargardt
 

Stargardt disease is a genetic condition affecting the macula, the central region of the retina responsible for producing sharp, detailed vision. It is the most common type of inherited macular dystrophy and usually manifests in childhood or adolescence, although it can appear in adulthood as well.

 

This condition causes an accumulation of a pigment called lipofuscin in the cells of the retinal pigment epithelium, leading to progressive degeneration of the macula. This condition mainly affects central vision, while peripheral vision usually remains intact.

 
 

 
 

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Symptoms of Stargardt disease vary depending on its stage, but the most common ones include:

 

  • Decreased visual acuity: Progressive and usually bilateral.
  • Difficulty adjusting to darkness: Problems adjusting to low light conditions.
  • Loss of central vision, while peripheral vision remains relatively preserved.
  • Distortion in colour perception, especially in advanced stages.

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Stargardt disease is associated with genetic mutations, specifically in the ABCA4 gene, which regulates debris clearance in retinal photoreceptors. Risk factors include:

 

  • Autosomal recessive inheritance: Both parents must carry the defective gene for the child to inherit the disease.
  • Prolonged exposure to sunlight: This may accelerate the accumulation of lipofuscin in the retina.

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Currently, there is no cure for Stargardt disease, but there are several strategies that can help manage progression and improve the quality of life of the patient:

 

  • Eye protection: Use of UV-filtering glasses to reduce sunlight damage.
  • Low vision aids: They help maximize functional vision and facilitate daily activities.
  • Vitamin A supplements are not recommended because they may be counterproductive.
  • Investigational therapies: Clinical trials exploring gene therapies, stem cell treatments and drugs aimed at slowing the progression of the disease.

 

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