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Stargardt macular dystrophy

pathology

Quick Summary

Stargardt macular dystrophy is the most common inherited form of macular degeneration. It is caused by mutations in the ABCA4 gene and is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for a child to be affected.1

This condition affects the macula lutea, a small, yellowish area in the retina responsible for sharp, central vision and color perception. The macula contains specialized cells called cones, which are crucial for detailed vision. In Stargardt macular dystrophy, the macula deteriorates, leading to a loss of central vision while peripheral vision typically remains intact. This can affect children, young adults, and adults.12

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2 Britannica Sources
  1. macular degeneration
  2. macula lutea

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