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Stargardt disease is the most common inherited single-gene retinal disease. [1] In terms of the first description of the disease, [2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).
3 wrz 2024 · Stargardt disease is an eye disease that causes vision loss in children and young adults. It is an inherited disease, meaning it is passed on to children from their parents. Stargardt disease is often called juvenile macular dystrophy (sometimes called juvenile macular degeneration).
29 wrz 2021 · Stargardt disease is an inherited disorder that usually causes vision loss in childhood or adolescence. It is also called Stargardt macular dystrophy, juvenile macular degeneration, or fundus flavimaculatus. Learn about the symptoms, causes, diagnosis, and treatment of Stargardt disease and current research.
1 gru 2014 · Stargardt disease is the most common juvenile macular dystrophy and a frequent heritable cause of central visual dysfunction in young patients. The prevalence of Stargardt disease is between 1:8,000 and 1:10,000. 1 Stargardt disease was first described in 1909 by Karl Stargardt.
21 sie 2017 · Stargardt Disease (STGD) is most commonly caused by mutations in the ABCA4 gene located on chromosome 1 (OMIM 601691) and is inherited in an autosomal recessive manner.
22 paź 2024 · The main symptoms of STGD are progressive vision loss, blurry vision, photophobia, color blindness, and retinal thinning, among others. Diagnosis of Stargardt disease is through a dilated eye exam to observe yellowish deposits in the macula known as lipofuscin.
8 sty 2024 · Stargardt disease (STGD1) is the most common cause of juvenile macular dystrophy. Mutations in the adenosine triphosphate binding cassette transporter alpha 4 subunit (ABCA4) gene cause this condition and are inherited in an autosomal recessive pattern.