Fundus flavimaculatus and Stargardt's disease

Abstract

Of 42 patients studied who had fundus flavimaculatus and Stargardt's disease, most had reduced visual acuity due to an atrophic macular lesion. Family histories were consistent with autosomal-recessive inheritance. In some young patients, the yellow-white flecks developed with time, while in some older patients the flecks faded, pari passau with increasing retinal pigment epithelial atrophy. Fluorescein angiography showed that most white flecks were largely or totally nonfluorescent. Even after the flecks had faded from view, the sites where they had been usually remained nonfluorescent. In patients with lesions confined to the posterior pole, the electroretinogram and electro-oculogram were usually normal; in patients with widespread lesions, one or both tests were usually abnormal. Affected members of any one family had a similar distribution of fundus lesions.