ABSTRACT
The term heredomacular dystrophies, or inherited macular dystrophies, is usually applied to a group of inherited macular afflictions that cause visible macular changes.The best known are Stargardt disease and Best disease, or vitelliform macular dystrophy. However, the macula responds to various insults in a stereotypical way. The same morphologic changes can be seen in Stargardt disease, in some cases of retinitis pigmentosa, and in an acquired iatrogenic disease: chloroquine retinopathy. A diffuse disease of the neural retina or of the retinal pigment epithelium may manifest itself as a maculopathy, sometimes with few or no foveal changes. In this chapter, I shall classify as inherited macular diseases such genetically determined retinal or retinal pigment epithelial (RPE) disorders that affect predominantly the macular area, either morphologically (by visible macular abnormalities) or functionally (by decreased visual acuity), or both.Widespread functional disorders of the cones, which affect the cone-rich macula, will be discussed in another chapter. Similarly, widespread abnormalities of the rods or of the choriocapillaris will be dealt with separately, except as mentioned for purposes of differential diagnosis in this chapter.
