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Several electrophysiologic tests, such as an electroretinogram, electro-oculogram, and dark adaptation testing have been used in the diagnosis and follow-up of patients with Stargardt macular dystrophy. It is infrequent that these tests are necessary to make the diagnosis, particularly when the yellow-white fundus flecks are apparent on examination. A fluorescein angiogram which is a photographic procedure, has been used to confirm the diagnosis in many patients. This test involves the injection of a dye, usually into an arm vein, which then can be photographed as it circulates through the vascular structures of the retina. A phenomenon referred to as the "dark" or "silent" choroid has been observed in the majority of patients with Stargardt macular dystrophy. This observation probably is associated with the accumulation of a waste material, referred to as lipofuscin, that accumulates in the pigment cells throughout the retina in patients with Stargardt macular dystrophy. On the angiogram this accumulation causes this very dark spot resulting in the silent choroid. The accumulation of this material is also likely to be responsible for some of the deterioration of visual cells in the retina, referred to as cones and rods. The changes observed within the retina, as well as center vision, tend to be more extensive and worsen over time. Most patients with Stargardt disease will experience visual loss of 20/100 to 20/400 often by 30 to 40 years of age. As indicated, peripheral, or side vision tends to remain normal. |
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