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Showing 1 to 9 of 9 for “"Stargardt disease"”.
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Stargardt disease: ABCA4 and beyond
Contains fulltext : 238965.pdf (Publisher’s version ) (Open Access)
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Stargardt disease - Toward clinical trials
Contains fulltext : 197556.pdf (Publisher’s version ) (Open Access)
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The molecular investigation of Stargardt disease in South Africa
… a group of conditions causing macular pathology. Stargardt disease (STGD) is the most common inherited juvenile macular dystrophy characterised by severed reduction of central visual acuity and normal peripheral vision. The ABCA4 (adenosine triphosphate binding cassette transporter) gene is the …
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Genetics of age-related macular degeneration and Stargardt disease in South African populations
Background: The Retinal Degenerative Diseases (RDD) Research Group in the Division of Human Genetics at UCT has for the past 25 years been intensively investigating a range of RDD phenotypes. Two points of particular note have emerged regarding Macular Degenerations (MD) : (i) that more than 58% of …
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Stargardt patient experiences in the first gene-based clinical trial for an inherited retinal condition in South Africa
Stargardt disease is a genetic condition that causes progressive central vision loss, typically beginning in late childhood or early adulthood. This vision loss is due to a build-up of lipofuscin in the macula, a part of the retina responsible for sharp central vision. Stargardt disease follows an …
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Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations
Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner. To date the only gene found to be involved with the autosomal recessive form is ABCA4. Mutations in …
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Structural Study of Disease Relevant ABC Transporters-Cystic Fibrosis Transmembrane Conductance Regulator and ABCA4
… in CFTR cause cystic fibrosis, a lethal disease with a prevalence of 1 in 2,500 in Caucasian populations. Over 800 mutations have been identified in ABCA4 to associate with various types of retinal disease, including the Stargardt disease (also known as juvenile macular degeneration), the …