Hyperlipofuscinosis and subretinal fibrosis in Stargardt's disease.

BACKGROUND: The fundus aspect of Stargardt's disease is characterized by progressive atrophic macular changes often associated with fundus flavimaculatus flecks. Other fundus changes have been described such as pallor of the optic disc, attenuated retinal vessels, cicatricial chorioretinitis, retinal pigment hyperplasia, subretinal neovascularization, or subretinal fibrosis. Three cases of Stargardt's disease and presumed subretinal hyperlipofuscinosis or subretinal fibrosis are presented.
METHODS: The clinical history, and the ophthalmoscopic and fluoroangiographic characteristics of these three patients are discussed, as well as the clinical course in the two first patients.
RESULTS: Two young patients with the ophthalmoscopic and fluoroangiographic aspects of Stargardt's disease in one eye showed the presence of dense orange subretinal material in the posterior pole of the fellow eye. During the follow-up period, the abnormal material regressed partially in one patient and completely in the other, leaving subretinal fibrosis and localized retinal pigment epithelial hyperplasia. The left fundus in a third patient was characterized by an area of subretinal fibrosis in the midperiphery.
CONCLUSION: It is presumed that the abnormal material in the two first patients is lipofuscin and that this represents an exaggerated response of the diseased retinal pigment epithelium, possibly to a minor trauma. That material will eventually be replaced by subretinal fibrosis. The fundus appearance in the third patient is possibly the result of a similar process.