Ocular coherence tomography angiography features of congenital hypertrophy of retinal pigment epithelium

Congenital hypertrophy of retinal pigment epithelium (CHRPE) is a benign, pigmented, flat lesion arising from the retinal pigment epithelium (RPE). In this study, we describe optical coherence tomography angiography (OCTA) features of two eyes with solitary CHRPE. We found that the retinal vasculature over CHRPE was normal in both cases. We observed that in solitary CHRPE, segmentation artifacts can interfere in the interpretation of retinal vasculature due to thinning of the outer retina. Visualization of the underlying choroidal vasculature was obscured to some extent by masking effect of the hyperpigmented RPE. The choroidal vasculature was better appreciated on en face OCTA. On OCTA, the retinal and choroidal vasculature associated with CHRPE was found to be normal in our study.

Congenital Hypertropthy of Retinal Pigment Epithelium Associated with Familial Adenomatous Polyposis Coli

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) has been described in association with systemic disorders such as Gardner's syndrome (intestinal polyposis, osteomas, and benign soft-tissue tumors), Turgot's syndrome (glioma-polyposis syndrome) and familial adenomatous polyposis (FAP) of the colon. FamiIial adenomatous polyposis is an autosomal dominant disorder characterized by hundreds of polyps throughout the entire colon, and in all patients carcinoma of the color, develops at the age of 40 to 50 years. We describe a family with familial adenomatous polylpcsis coli and congenital hypertrophy of the retinal pigment epithelium. All of them except mother showed flat, weII-demarcated, round to oval pigmented patches of CHRPE. We emphasize the importance of CHRPE as a clinical marker in identifying patients With FAP since they are at risk for cancer.

Congenital Hypertropthy of Retinal Pigment Epithelium Associated with Familial Adenomatous Polyposis Coli

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) has been described in association with systemic disorders such as Gardner's syndrome (intestinal polyposis, osteomas, and benign soft-tissue tumors), Turgot's syndrome (glioma-polyposis syndrome) and familial adenomatous polyposis (FAP) of the colon. FamiIial adenomatous polyposis is an autosomal dominant disorder characterized by hundreds of polyps throughout the entire colon, and in all patients carcinoma of the color, develops at the age of 40 to 50 years. We describe a family with familial adenomatous polylpcsis coli and congenital hypertrophy of the retinal pigment epithelium. All of them except mother showed flat, weII-demarcated, round to oval pigmented patches of CHRPE. We emphasize the importance of CHRPE as a clinical marker in identifying patients With FAP since they are at risk for cancer.