Leading form of inherited macular degeneration
Stargardt Disease (STGD1) is a rare, progressive, and serious genetic disease that almost universally leads to legal blindness. Onset of vision loss typically starts in childhood or adolescence. Although rare, it affects approximately 60,000 people in the United States and is the 3rd largest monogenic recessive disease. Currently, there is no available treatment for Stargardt Disease.
Patients with STGD1 most often experience loss of visual acuity that is uncorrectable by glasses and/or vision aids during their childhood and teenage years. Diagnosis is often delayed due to lack of understanding and awareness of the disease, complicating treatment options and outcomes.
STGD commonly affects central vision and causes an atrophy in the macula , while sparing some peripheral vision. Majority of STGD1 patients will live legally blind for most of their adulthood. Loss of central vision and legal blindness limits patients from performing certain tasks like reading, writing, driving, and recognizing faces. There are some patients with a late-onset form of STGD1 that do retain some visual acuity in adulthood. The ABCA4 gene, which was implicated in the pathophysiology of STGD1 in 1997, is responsible for the synthesis of a protein that transports vitamin A molecules from light sensitive molecules called “photoreceptors” into specialized cells that are part of the “RPE ” so that vitamin A can be recycled/reused for vision.
In STGD1, defects in the ABCA4 gene lead to partially or fully dysfunctional Rim proteins. Such dysfunction negatively affects transportation and recycling of vitamin A, causing an accumulation of vitamin A that eventually leads to formation of toxic “vitamin A dimers” in the photoreceptors. Vitamin A dimers are believed to be partially responsible for vision loss.
While vitamin A dimerization occurs in people without STGD1 as well, the process is accelerated in STGD1 and dimers take only a few years rather than decades to accumulate.
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