Dominantly inherited macular dystrophy with flecks (Stargardt)

Abstract

A family had dominantly inherited macular dystrophy with flecks and without evidence of major cone dysfunction. This family shows that the clinical picture of Stargardt's disease can result from at least two different genes: one with dominant and another with recessive heredity. Some patients had fundus flavimaculatus flecks of Stargardt's disease; others did not. In our opinion progressive atrophic macular (foveal) dystrophy as Stargardt's disease without flecks is not a separate clinical entity but part of the same genetic defect. Furthermore, a dominant hereditary pattern in patients without flecks or major cone dysfunction is insufficient evidence for classification of such patients as having cone dystrophy.