Congenital hypertrophy of retinal pigment epithelium presenting as incidental finding in a middle aged woman

• Author Details:   
• Harsh Vardhan Singh
• Iva Rani Kalita
• Shubhra Das

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Introduction: Retinal Pigment epithelial hypertrophy are uncommon benign, epithelial malformation characterised by typical fundus findings, which is almost always congenital in nature. RPE hypertrophy occurs in three varieties: unifocal, unilateral lesion; multifocal unilateral lesion; and atypical multifocal, bilateral lesion. While the atypical multifocal, bilateral lesions are associated with familial adenomatous polyposis syndrome & requires systemic evaluation the other two varieties have benign coarse & doesnot require any intervention.
Case Report: A 42yr Female noticed diminished vision in R/E following trivial trauma with fingernail 14 days back, it was not associated with pain, redness or any other symptoms. On evaluation, BCVA was 6/18p, N6 R/E & 6/6, N6 L/E; rest anterior segment evaluation was normal. R/E fundus showed focal, 1 DD sized, well-demarcated, hyperpigmented lesion just temporal to fovea with blocked fluorescence in all phase of FFA. OCT & B-scan showed slightly elevated retinal lesion with optical shadowing. Diagnosis of Retinal pigment epithelial hamartoma (RPEH) was made. Lesion was documented & followed.
Discussion and Conclusion: RPE hypertrophy are presumed congenital stationary retinal malformation with characteristic ophthalmic, fluorescerin angiographic & OCT features. These lesions present as asympotomatic incidental findings in childhood or adults with good visual prognosis if located at extrafoveal sites. Gass et al & shields et al had described various types of RPE malformations & their characteristic features in FFA & OCT.
In present case, we have reported a rare case of RPEH & also demonstrated the role of ancillary tests for diagnosis & followup.

Keywords: Congenital retinal pigment epithelial hypertrophy, RPE hypertrophy, Congenital retinal malformation.