Macular congenital hypertrophy of retinal pigment epithelium (CHRPE) in a patient with best vitelliform dystrophy (BVD).

To cite: Kumar V, Chandra P, Kumar A. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212832 DESCRIPTION A 28-year-old woman presented with decreased vision in her right eye for the past 6 months. She also reported several years of low vision in both eyes. There was no history of ocular trauma or previous laser photocoagulation. Best-corrected visual acuity (BCVA) was 6/36 in the right eye and 6/18 in the left. Anterior segment was normal in both eyes. There were no signs of intraocular inflammation. Dilated fundus examination showed peripapillary atrophy and a pigmented lesion at the right macula (figure 1A). This lesion contained depigmented lacunae and had a white ring at its outer border. There was a ‘scrambled egg appearance’ of the left macula, suggestive of a vitelliruptive stage of best vitelliform dystrophy (BVD) (figure 1B). Spectral domain optical coherence tomography (SD-OCT) of the right macula revealed foveal atrophy, hyperreflectivity from the retinal pigment epithelium (RPE) hypertrophy with underlying shadowing and loss of outer retinal layers adjacent to the RPE hypertrophy (figure 1C). SD-OCTof the left macula demonstrated neurosensory detachment, elongation of the photoreceptor outer segments and a fibrotic pillar at the level of the RPE (figure 1D). A full-field electroretinogram was within normal limits in both eyes, however, an electro-oculogram showed a reduced Arden ratio in both eyes (1.1 and 1.2 in right and left eye, respectively). A diagnosis of BVD with congenital hypertrophy of retinal pigment epithelium (CHRPE) at the right macula was made. Solitary macular CHRPE is an uncommon entity and has been reported to comprise only 1% of all cases of CHRPE. The occurrence of macular CHRPE in the setting of BVD has hitherto been unreported.