What is Stargardt Disease? Illustration ElaSaude
Stargardt disease is a genetic degenerative condition that affects vision, specifically the macula, which is the central part of the retina responsible for detailed and central vision. This disease is a hereditary form of macular degeneration and is the most common cause of juvenile macular degeneration.
Main characteristics of Stargardt disease:
– Loss of central vision: People with Stargardt disease experience a progressive loss of central vision, which affects activities such as reading, writing, driving, and recognizing faces. Peripheral vision is usually preserved.
– Spots on the retina: A characteristic sign of the disease is the presence of yellow deposits (called “flecks” or “lipofuscin”) that accumulate in the retina, particularly in the macula.
– Blurred and distorted vision: People may perceive their vision as blurry, distorted, or with dark spots in the center of their visual field.
– Variable progression: The rate of vision loss can vary greatly among individuals. Some may experience rapid vision decline, while others may have a slower progression.
Cause:
Stargardt disease is usually caused by mutations in the ABCA4 gene, which is responsible for producing a protein involved in transporting substances within retinal cells. These mutations lead to the accumulation of toxic material in the retinal cells, causing damage and loss of visual function.
Diagnosis and Treatment:
Diagnosis is made by an ophthalmologist through eye exams, optical coherence tomography (OCT), and, in some cases, genetic testing to confirm the mutation in the ABCA4 gene. Currently, there is no cure for Stargardt disease, but research is underway to develop therapies, including gene therapies, stem cell therapies, and treatments aimed at slowing the disease’s progression.
Impact:
Stargardt disease can significantly impact the quality of life of those affected, especially since it often begins in childhood or adolescence. However, with appropriate support, many people can adapt to changes in vision and continue to lead active and productive lives.
Source: Genetics Home Reference (NIH) / National Eye Institute (NEI)
