Giant congenital hypertrophy of retinal pigment epithelium

Figure 1: (a) Optomap pseudocolor image of the left eye showing a large, flat, well-circumscribed hyperpigmented lesion with scalloped edges and multiple hypopigmented lacunae in the temporal retina (14.9 × 12.4 mm). (b) Fundus autofluorescence demonstrating complete absence of signal from the lesion, typical of CHRPE. (c) Red-free imaging highlighting the well-defined lesion with a sclerosed artery coursing over it (arrow). (d) OCT scan through the lesion showing increased RPE thickness and reflectivity with loss of outer retinal layers and choriocapillaris, compared to adjacent normal retinaA 60-year-old male presented with a 6-month history of gradual, bilateral vision loss. The best-corrected visual acuity was 6/9 in both eyes with grade 2 nuclear sclerosis. Fundus examination of the left eye showed a large, flat, well-defined hyperpigmented lesion in the temporal retina with scalloped margins and hypopigmented lacunae. Using the Optos Advance software ruler, the lesion measured 14.9 mm × 12.4 mm [Fig. 1a, Supplementary Fig. 1]. Fundus autofluorescence demonstrated complete signal absence [Fig. 1b], while red-free imaging revealed a dark, sharply defined lesion with an overlying sclerosed artery [Fig. 1c, arrow]. OCT [Fig. 1d] showed RPE thickening with outer retinal layers loss. A diagnosis of congenital hypertrophy of the retinal pigment epithelium (CHRPE) was made. The largest solitary CHRPE previously reported measured 13 mm.[1] Though typically benign, CHRPE can enlarge (median 2 microns/mm lesion base per month over 3 years) and rarely show malignant transformation.[1–3] The patient is under annual surveillance with no progression at 1-year follow-up. Multimodal imaging was valuable here as red-free imaging identified the sclerosed vessel not visible on autofluorescence.Supplementary Figure 1: Optomap pseudocolor image of the left eye showing measurement of the lesion size using the Optos Advanced software ruler (14.9 × 12.4 mm)Author’s contributions Dr. Shakha was involved in concept, design, definition of intellectual content, literature search, data acquisition, data analysis, and manuscript preparation. Dr. Vinod Kumar contributed to concept, design, definition of intellectual content, manuscript editing, and manuscript review. Dr. Vanaja Jain contributed to data acquisition, data analysis, manuscript editing, and manuscript review. All authors have read and approved the final manuscript. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship: Nil. Conflicts of interest: There are no conflicts of interest.