[Maculopathy with areolar retinal pigment epithelium defects].

Maculopathy with areolar or annular defects in the retinal pigment epithelium (RPE) can have manifold differential diagnoses. If such alterations occur in adolescence or early adulthood with good visual acuity, precise diagnostics and confirmation of the diagnosis are of special importance with respect to the prognosis of the disease. We report the case of a 36-year-old female patient with bilateral perifoveolar, areolar retinal pigment epithelium defects. The patient suffered from metamorphopsia with good visual acuity. Visual disturbances had initially begun 8 years previously. Perifoveolar RPE defects can be visualized with autofluorescence photography and optical coherence tomography (OCT) and result in functional defects in perimetry, microperimetry and multifocal electroretinography. The symptoms and course are in accordance with fenestrated sheen macular dystrophy. A therapy does not exist. This rare autosomal-dominant inherited macular dystrophy is often asymptomatic and has a good prognosis for visual acuity.