Stargardt's Disease

Stargardt’s disease manifests itself in patients who show an atrophic macular area surrounded by some or many yellowish, ill defined flecks. Stargardt’s disease seems to be caused by the ADCR gene on the short arm of chromosome 1.

Patients usually report vision diminishing between the ages of 6 and 20 years. This disease is only inherited if both parents have recessive genes, but siblings can have the same condition with only one parent having a recessive gene. In the initial stage, there are often no ophthalmic findings. Later, the fovea may show a granulated appearance with a pigment epithelial defect centrally, often surrounded by horizontal ovoid zone of faint hyperfluorescent flecks. This area has been described as “beaten-bronze atrophy.”

On fluorescein angiography, there is increased retinal capillary visibility when compared to the same area in a normal eye. This is because of increased filter action of the retinal pigment epithelium (RPE), and a “choroidal silence” is readily apparent. Histopathologic and histochemical studies in recent years have demonstrated evidence that these patients have a diffuse lipofuscin storage disease affecting the RPE.

Visual acuity gradually decreases with time, often asymmetrical. One eye could be 20/200 with the other eye 20/25. In cases of longer standing duration, acuity may decrease to count fingers.

Research is trying to find ways to treat this disease. Low vision aids will help a patient function better in daily living by utilizing their remaining central and peripheral vision. Gene therapy may be a value in the future.