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Stargardt disease is a genetic retinal disorder that causes vision loss in childhood or adolescence. It is caused by mutations in different genes, such as ABCA4, ELOVL4 or PROM1, and can be diagnosed by clinical examination and genetic testing.
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 ...
Choroba Stargardta (STGD1) jest najczęstszą z dziedzicznych dystrofii plamki (1:8000–10 000) u dzieci i dorosłych. W ciągu ostatnich 10 lat poczyniono znaczne postępy w zrozumieniu patofizjologii tej choroby, a także jej cech klinicznych i podłoża molekularnego.
3 wrz 2024 · Stargardt disease is a genetic eye disease that affects the macula and causes vision loss in children and young adults. Learn about the symptoms, diagnosis, treatment and prevention of this condition from the American Academy of Ophthalmology.
2 kwi 2019 · Choroba Stargardta powoduje stopniowy zanik fotoreceptorów i komórek nabłonka barwnikowego w obrębie plamki siatkówki, czyli w miejscu, gdzie przetwarzane są impulsy z centrum pola widzenia. Przyczyny zespołu Stargardta. Zespół Stargardta to choroba oczu związana najczęściej z wadą złożonego genu ABCA4.
29 wrz 2021 · Stargardt disease is a rare genetic eye disease that causes vision loss in childhood or adolescence. Learn about the symptoms, causes, diagnosis, treatment, and research of this condition from the NEI.
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 ...
