Search results
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).
Stargardt is a genetic disorder. In its typical form (STGD1, OMIM #248200) it is caused by mutations involving the ABCA4 gene, through autosomal recessive homozygous or compound heterozygous transmission. Additionally, autosomal dominant transmission (STGD4, OMIM #603786) is possible, through heterozygous mutations in the PROM1 gene (4p).
Stargardt kasalligi eng keng tarqalgan irsiy retinal kasallikdir. [1] Bu kasallik ABCA4 gen variantlari (STGD1) allellariga bogʻliq [2] retsessiv autosomal irsiylanuvchi kasallik hisoblanadi. Biroq, STGD3 va STGD4 deb ataladigan va mos ravishda ELOVL4 yoki PROM1 genlari bilan bogʻliq nuqsonlar tufayli autosomal dominant tipda irsiylanuvchi Stargardtga oʻxshash kasalliklar mavjud.
Stargard ([ˈstarɡart] ⓘ; 1945: Starogród, 1950–2016: Stargard Szczeciński; German: Stargard in Pommern or Stargard an der Ihna; Kashubian: Stôrgard) is a city in northwestern Poland, located in the West Pomeranian Voivodeship. In 2021 it was inhabited by 67,293 people. [1] It is situated on the Ina River.
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.
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 ...
Choroba Stargardta (ang. Stargardt’s disease, STGD) lub dno żółto-plamiste (łac. fundus flavimaculatus) – dwie formy jednej choroby genetycznej narządu wzroku, spowodowanej mutacją w genie ABCA4, rzadziej CNGB3 albo ELOVL4. Schorzenie dziedziczone jest w sposób autosomalny recesywny.
