Stargardt's disease: the evolution of a diagnosis

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 problem. At one stage in evolution, when retinal flecks and only subtle changes in the maculae were present, a diagnosis of a pure form of fundus flavimaculatus was considered likely. When severe granularity and atrophy of the maculae later developed in the presence of the retinal flecks, a more appropriate diagnosis of Stargardt's disease was made. As the degenerative and atrophic changes in the maculae became more pronounced in early adulthood, the flavimacular retinal flecks had all but disappeared.