Regarding a case, can hypertrophy of the retinal pigment epithelium be the first sign of familial adenomatous polyposis?

Aims/Purpose: Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) is a benign ocular condition characterized by well‐demarcated, flat, pigmented lesions in the retinal pigment epithelium. The primary aim of studying CHRPE is to understand its prevalence, features, and potential associations with other conditions, particularly familial adenomatous polyposis coli (FAP), which can have significant health implications. Methods: With an example clinical case, methods for studying CHRPE often involve comprehensive eye examinations using tools like the Optomap imaging system, which provides ultra‐wide‐field views of the retina, enabling detailed observation of the lesions. Results: Results from studies have shown that CHRPE has a low prevalence rate and is typically found temporally to the optic disc within the peripheral fundus. The lesions are usually monocular and exhibit a range of documented shapes and sizes. Some lesions present with depigmented haloes and lacunae, which are atrophied window‐like defects. The progression of CHRPE is not well‐documented due to the lack of longitudinal follow‐up in most studies. However, there is evidence suggesting that the lesions may increase in size due to atrophy over time. Conclusions drawn from the research indicate that CHRPE is generally not associated with symptoms or visual impairment, and its presence does not necessarily indicate a link with syndromes like FAP, Gardner's, or Turcot's. Conclusions: This conclusion is significant as it helps differentiate CHRPE from similar retinal conditions that may have more serious implications. For further reading on the prevalence and ocular features of CHRPE in the optometric population, one can refer to the study by Coleman and Barnard. Additionally, the imaging characteristics of CHRPE have been described in detail in a retrospective observational case series, which provides insights into the lesion's features as analyzed by enhanced‐depth imaging optical coherence tomography. References: Deibert B, Ferris L, Sanchez N, Weishaar P. The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE). Am J Ophthalmol Case Rep. 2019 Sep; 15: 100524.