Stargardt Macular Dystrophy is the most frequently encountered juvenile onset form of macular dystrophy. This disorder was initially described in 1909 by Karl Stargardt, a German Ophthalmologist.

Persons affected with Stargardt’s first present with the complaint of a decrease in central vision, generally within the first 20 years of life. In some instances, persons may not note visual impairment until their 30's or 40's. Impairment of color vision is generally not noted initially. In the majority of instances, patients do not experience a loss in peripheral vision or night-blindness. However, it has been shown that persons with Stargardt’s have some dark adaptation problems. Once exposed to sunlight, persons with normal vision who enter a dark place need three minutes or so to adapt to the darker environment. However, persons with Stargardt’s disease may take six, eight, ten minutes or longer to adapt to the dark environment.

The diagnosis of Stargardt Macular Dystrophy can often be made by observing characteristic changes that occur within the retina. These involve what has been described as an atrophic or "beaten-bronze" appearance of deterioration to the central portion of the retina that is referred to as the macula.

A characteristic, and often diagnostic feature is the presence of numerous yellowish-white spots that occur within the retina surrounding the atrophic-appearing central macular lesion. These spots or "flecks" can either be sparse or numerous. In certain patients, numerous flecks can be apparent in the absence of or with only minimal atrophic deterioration changes in the macula. Such patients were subsequently referred to as having fundus flavimaculatus, a term first used in 1963 by a European ophthalmologist, Franceschetti. It is now known that Stargardt macular dystrophy and fundus flavimaculatus represent the same genetic disease. Both are transmitted as an autosomal recessive trait. This indicates that both parents, who themselves are normal, carry a defective gene. Together, they can pass on this trait with a risk of 25% for each offspring. Their offspring, in turn, are unlikely to further pass on the trait unless they marry either someone who happens to carry the defective gene or some one who has Stargardt macular dystrophy.

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