Stargardt Disease

Stargardt is an inherited progressive retinal disease leading to severe and irreversible vision loss.

Stargardt disease is the most common form of inherited juvenile macular degeneration.

Although the rate of disease progression varies, approximately 50% of patients may experience significant visual impairment within three years of symptom onset.

Stargardt is the third largest monogenic recessive disease

~30,000 to
~87,000

patients in the U.S.

1 in 6,000 to
1 in 10,000

prevelance

95% of cases

are due to pathogenic variants in ABCA4

Variant
in ABCA4

leads to accumulation of toxic vitamin A dimers, resulting in retinal cell death

There are no available treatments for Stargardt disease.

Accumulation of vitamin A dimers is a primary mechanism of disease in Stargardt.

  • Vitamin A transport through retinal cells is essential for healthy vision
  • Genetic mutations lead to insufficient vitamin A transport
  • Vitamin A accumulates and creates dimers, a toxic byproduct implicated in Stargardt disease.

Visual symptoms include:

  • Poor visual acuity
  • Blurry central vision
  • Distorted images
  • Blind spots

A confirmatory diagnosis of Stargardt disease can be established by Next Generation Sequencing (NGS) genetic testing.

Infographic: Accumulation of vitamin A dimers is a primary mechanism of disease in Stargardt.

Profound impact on patients' lives

Stargardt disease onset can begin in early childhood and progressively worsen over time. The earlier the age of onset of Stargardt, the more rapid the progression of the disease. The loss of central vision can result in significant impacts on patients’ lives.

  • Physical/Sport activities
  • Leisure activities
  • Social activities
  • Mobility limitations

Stargardt Resources

There are helpful resources available to people living with and impacted by Stargardt disease.