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Case Reports
. 2019 Jul 24:15:100524.
doi: 10.1016/j.ajoc.2019.100524. eCollection 2019 Sep.

The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE)

Brent Deibert  1   2 , Letisha Ferris  1   2 , Noel Sanchez  1 , Paul Weishaar  1
Affiliations
Case Reports

The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE)

Brent Deibert et al. Am J Ophthalmol Case Rep. .

Abstract

Purpose: Clarify the differences between Familial Adenomatous Polyposis (FAP)-associated Congenital Hypertrophy of the Retinal Epithelium (CHRPE) and benign variants with regards to lesion characteristics and associated risk.

Observations: An eighteen-year-old man with no past medical history was found to have multiple lesions in both eyes that were consistent with FAP-associated CHRPE. Although family history was negative for colon cancer, a colonoscopy was performed, and hundreds of polyps were found extending from the rectum to the distal colon with pathological findings of tubular adenoma. Genetic testing was consistent with a possible de novo Adenomatous Polyposis Coli (APC) mutation.

Conclusions: FAP is an autosomal dominant syndrome that causes colorectal cancer by age thirty-five in ninety-five percent of cases. There has been no established relationship between the benign variants of CHRPE and FAP, and patients with benign variants have no increased risk of colon cancer. While the lack of distinction in nomenclature and similar lesion appearance often leads to misdiagnosis and overtreatment, there are distinct ocular exam features that can provide the correct diagnosis. The exam findings that distinguish FAP-associated CHRPE lesions are (1) bilateralism, (2) occurrence in multiple quadrants, (3) pisiform shape, and (4) irregular borders. Knowing these features can be of great aid, especially in the setting of suspected de novo Familial Adenomatous Polyposis.

Keywords: Bear tracks; Colon cancer; Congenital hypertrophy of the retinal epithelium (CHRPE); Familial adenomatous polyposis (FAP); Gardner syndrome; Grouped pigmentation of the retina.

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Figures

Fig. 1
Fig. 1
Right eye, pisiform lesions with halo and small adjunct pigmented spot.
Fig. 2
Fig. 2
Right eye, punctate pigmentations.
Fig. 3
Fig. 3
Left eye, large pisiform lesion superior to optic disc.
Fig. 4
Fig. 4
Left eye, punctate pigmentations.
See this image and copyright information in PMC

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