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Novel therapeutics for Stargardt disease
Graefe's Archive for Clinical and Experimental Ophthalmology, 2017Stargardt disease, an inherited macular dystrophy caused by mutations in the ABCA4 gene encoding a retinal transporter protein, is the most prevalent form of macular degeneration in children. Patients with Stargardt disease develop severe vision loss within their first or second decades of life, which progresses to irreversible decreased visual acuity ...
Ji Liu
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Fundus Flavimaculatus and Stargardt's Disease
American Journal of Ophthalmology, 1976Of 42 patients studied who had fundus flavimaculatus and Stargardt's disease, most had reduced visual acuity due to an atrophic macular lesion. Family histories were consistent with autosomal-recessive inheritance. In some young patients, the yellow-white flecks developed with time, while in some older patients the flecks faded, pari passau with ...
O B, Hadden, J D, Gass
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Understanding the etiology of Stargardt's disease
Ophthalmology Clinics of North America, 2002Stargardt's disease is a form of juvenille macular degeneration. Patients with Stargardt's disease typically present in the first or second decade of life, complaining of decreased visual acuity. Recent research allows for a three-step explanation of the pathophysiology of Stargardt's disease: 1) Defective Rim Protein, a protein encoded by the ABCA4 ...
Liane Clamen, Glazer, Thaddeus P, Dryja
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1993
Stargardt’s disease is an autosomal recessive condition in which the retina displays characteristic yellow flecks often associated with macular degeneration. The degeneration appears similar to that seen with fundus flavimaculatus. It is debated, however, whether these two entities are distinct or represent two points on the spectrum of a single ...
Juan Orellana, Alan H. Friedman
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Stargardt’s disease is an autosomal recessive condition in which the retina displays characteristic yellow flecks often associated with macular degeneration. The degeneration appears similar to that seen with fundus flavimaculatus. It is debated, however, whether these two entities are distinct or represent two points on the spectrum of a single ...
Juan Orellana, Alan H. Friedman
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Stargardt's Disease: The Evolution of a Diagnosis
Journal of Pediatric Ophthalmology & Strabismus, 1987ABSTRACT In Stargardt's disease, a gradual loss of vision may precede both the appearance of paracentral or peripheral retinal flecks as well as funduscopically obvious macular changes. This latency delayed a diagnosis of Stargardt's disease in a young girl who underwent neurologic testing for what eventually turned out to be a retinal ...
B F, Smith, J B, Smith, J, Low
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Stargardt's Disease and Fundus Flavimaculatus
Archives of Ophthalmology, 1979A study of 67 patients with a diagnosis of Stargardt's disease (juvenile macular degeneration) or fundus flavimaculatus showed that, apart from the ophthalmoscopic appearance, there is no clear distinction between these two disorders. The disease is an autosomal recessive macular degeneration that is bilateral and symmetrical in appearance, with ...
K G, Noble, R E, Carr
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Color vision in Stargardt's disease
International Ophthalmology, 1992The color vision of nine patients aged from 13 to 52 years with Stargardt's disease was studied with the following tests: Standard Pseudoisochromatic Plates part 2 (SSP2), Farnsworth-Munsell 100 hue test (FM100), Nagel (red-green) anomaloscope and Besançon (blue) anomalometer.
M, Mäntyjärvi, K, Tuppurainen
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Dual AAV Vectors for Stargardt Disease
2017Stargardt disease (STGD1), due to mutations in the large ABCA4 gene, is the most common inherited macular degeneration in humans. Attempts at developing gene therapy approaches for treatment of STGD1 are currently ongoing. Among all the vectors available for gene therapy of inherited retinal diseases, those based on adeno-associated viruses (AAV) are ...
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