Abstract

Stargardt disease (STGD1) is a predominantly juvenile-onset macular dystrophy associated disease with rapid central visual loss, progressive bilateral atrophy of the macular retinal pigment epithelium and yellow pisciform flecks, defined to be lipofuscin deposits, throughout the posterior pole. Classic macular findings include a “beaten-bronze” appearance, “bull`s eye” macula or geographic atrophy; however, these presentations may not always be evident early in the disease process.

The STGD1 is caused by a mutation in the ABCA4 gene; more than 800 diseaseassociated ABCA4 variants have been identified. The ABCA4-associated retinopathy may present with a wide spectrum of phenotypic variability: autosomal-recessive STGD1, cone-rod dystrophy and retinitis pigmentosa. For this reason, various clinical tests (ophthalmoscopy, fundus autofluorescence imaging, optical coherence tomography, fluorescein angiography, full-field electroretinography, genetic testing) are necessary to make correct diagnosis.