Central areolar pigment epithelium dystrophy. Its differentiation from other dominant macular dystrophies

Central areolar pigment epithelial dystrophy (CAPE dystrophy) is a rare, dominantly transmitted, dystrophy of the retinal pigment epithelium. The disease does not cause severe loss of function. This is partly due to the slightly eccentric localization of the dystrophy (the pigment epitheliopathy has a paramacular temporal localization). The disease is not progressive. Characteristic features are near-normal or normal visual acuity, undisturbed colour vision and normal ERG and EOG. Because of the eccentric position of the dystrophy, we suggest renaming this hereditary dystrophy of the macula as "paramacular areolar pigment epithelial dystrophy". The most important conditions that must be considered in the differential diagnosis are all dominantly inherited macular dystrophies. The most decisive criteria of paramacular areolar pigment epithelial dystrophy are good visual acuity, intact colour vision and normal electrophysiological findings. Because of the dominant transmission with high expressivity and high penetrance, it must be assumed that this dystrophy occurs more frequently than it is diagnosed. Because of the lack of complaints in patients it can easily be overlooked. However, the paramacular areolar pigment epithelial dystrophy should be included in every differential diagnosis of inherited macular dystrophy.