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Nicholas Stargardt (born in 1962) is Professor of History at Oxford University, currently serving as Vice President of Magdalen College. Stargardt is the son of a German-Jewish father and Australian mother.
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 macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691).
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which ...
1 gru 2014 · Download PDF. 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.
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the
Choroba Stargardta (STGD), nazywana także młodzieńczym zwyrodnieniem plamki żółtej, jest to nieuleczalna, postępująca, genetyczna choroba narządu wzroku prowadzą-ca do znacznej niepełnosprawności wzroku, a nawet do ślepoty prawnej1.
