The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE)
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 fo...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2019-09-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993619302130 |
| _version_ | 1811275987418087424 |
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| author | Brent Deibert Letisha Ferris Noel Sanchez Paul Weishaar |
| author_facet | Brent Deibert Letisha Ferris Noel Sanchez Paul Weishaar |
| author_sort | Brent Deibert |
| collection | DOAJ |
| description | 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: Congenital hypertrophy of the retinal epithelium (CHRPE), Gardner syndrome, Familial adenomatous polyposis (FAP), Grouped pigmentation of the retina, Bear tracks, Colon cancer |
| first_indexed | 2024-04-12T23:48:24Z |
| format | Article |
| id | doaj.art-b33b00e077f849dd928ca3916cc31a8a |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-04-12T23:48:24Z |
| publishDate | 2019-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-b33b00e077f849dd928ca3916cc31a8a2022-12-22T03:11:48ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362019-09-0115The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE)Brent Deibert0Letisha Ferris1Noel Sanchez2Paul Weishaar3University of Kansas Medical Center – Wichita, 1010 North Kansas, Wichita, KS, USA; University of Nebraska Medical Center, 42nd and Emile, Omaha, NE, USA; Corresponding author. Truhlsen Eye Institute, 3902 Leavenworth St, Omaha, NE, 68105, USA.University of Kansas Medical Center – Wichita, 1010 North Kansas, Wichita, KS, USA; University of Nebraska Medical Center, 42nd and Emile, Omaha, NE, USAUniversity of Kansas Medical Center – Wichita, 1010 North Kansas, Wichita, KS, USAUniversity of Kansas Medical Center – Wichita, 1010 North Kansas, Wichita, KS, USAPurpose: 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: Congenital hypertrophy of the retinal epithelium (CHRPE), Gardner syndrome, Familial adenomatous polyposis (FAP), Grouped pigmentation of the retina, Bear tracks, Colon cancerhttp://www.sciencedirect.com/science/article/pii/S2451993619302130 |
| spellingShingle | Brent Deibert Letisha Ferris Noel Sanchez Paul Weishaar The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE) American Journal of Ophthalmology Case Reports |
| title | The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE) |
| title_full | The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE) |
| title_fullStr | The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE) |
| title_full_unstemmed | The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE) |
| title_short | The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE) |
| title_sort | link between colon cancer and congenital hypertrophy of the retinal pigment epithelium chrpe |
| url | http://www.sciencedirect.com/science/article/pii/S2451993619302130 |
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