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Stargardt disease (STGD) is the most common childhood recessively inherited macular dystrophy. The condition has a genetic basis due to mutations in the ABCA4 gene, on chromosome 1, that encodes a retinal transported protein; it results from the accumulation of visual cycle kinetics-derived byproducts in the retinal pigmented epithelium (RPE ...
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. The gene encodes for an ATP-binding cassette membrane protein in the retinal rod and cone photoreceptor outer segments involved in the transport of all-trans-retinal aldehyde ...
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).
8 sty 2024 · Stargardt disease is a genetic disorder that leads to the accumulation of lipofuscin, a metabolic waste product, in the retina. This condition is a heterogeneous disease with many clinical presentations, which vary vastly in the age of onset and the rate of progression.
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.
Multifocal pattern dystrophy simulating Stargardt disease is characterized by irregular yellow-white flecks scattered throughout the posterior pole resembling those found in Stargardt disease. The flecks are variable in size, shape and number and are often situated around the retinal vascular arcades, especially nasal and superior to the optic ...
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).
