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[摘要]：Stargardt disease, also known as Stargardt macular dystrophy and fundus flavimaculatus, is a common, inherited, juvenile-onset disease that results in bilateral vision loss and macular degeneration as a result of lipofuscin accumulation in photoreceptor cells of the retina. The disease may be caused by a number of compound mutations within the ABCA4 gene that encodes for an ATP-binding cassette transporter known as RIM protein. In addition to Stargardt disease, mutations within this gene can lead to a number of other retinopathies, which can make diagnosis difficult. The disease is usually diagnosed by a combination of genetic screening, functional visual tests and ophthalmic examination of the fundus. As yet, there is no treatment available for the disease beyond minimizing light exposure, although studies in a mouse model have uncovered several potential therapies that may prove effective in humans, such as the use of retinoid analogues to inhibit the aberrant functioning of the visual cycle that leads to the accumulation of toxins. Current clinical trials are under way for viral gene therapy following the success of this method in treating other retinopathies, such as Leber's congenital amaurosis. Recent FDA approval has also been given for a phase I/II clinical evaluation of human embryonic stem cell transplant of retinal epithelial cells. |
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