Macular congenital hypertrophy of the retinal pigment epithelium: a case report

Purpose. To describe autofluorescence, microperimetry, and electrophysiology findings in a case of macular congenital hypertrophy of the retinal pigment epithelium (CHRPE). Methods. A 58-year-old man was referred to the Department of Ophthalmology of the University of Udine for the evaluation of a pigmented macular lesion in the right eye. The patient underwent blue-light autofluorescence (BL-AF), near-infrared autofluorescence (NIR-AF), electrooculogram, full-field electroretinogram and multifocal electroretinogram (mfERG), microperimetry, computerized visual field, and optical coherence tomography (OCT). Results. BL-AF performed using Heidelberg Retinal Angiograph II revealed a homogeneous hypoautofluorescence, surrounded by a hyperautofluorescent halo. NIR-AF showed a heterogeneous response combining an increased signal in the center of the lesion bordered by a decreased and darker signal. Electrooculogram and full-field electroretinogram were normal in both eyes. mfERG revealed only a limited area of reduced function in the right eye, which matched to location of CHRPE. The segments most functionally altered on mfERG corresponded to the area showing an increased signal in the NIR-AF, possibly reflecting the presence of increased pigment density within a more viable retinal pigment epithelium-Bruch membrane complex. Conclusions. In essence, macular CHRPE is associated with slight defect in retinal sensitivity and outer retinal dysfunction secondary to the anatomic changes characteristic of the lesion. (Eur J Ophthalmol 2010; 20: 621-4)