Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) as a Screening Marker for Familial Adenomatous Polyposis (FAP): Systematic Literature Review and Screening Recommendations

Figures & data

Table 1 Included Literature Listed by Year of Publication with Associated Study Size, NHMRC Level of Evidence and Grading

Study Number	Author (Year)	Study Size (n)	NHMRC Level of Evidence (I–IV)	NHMRC Grading (A–D)
1.	Mirinezshad et al (2017)^Citation6	49	III-2	B
2.	Nusliha et al (2014)	30	III-2	C
3.	Chen et al (2006)^Citation8	82	III-1	B
4.	Tourino et al (2004)^Citation9	286	III-2	B
5.	Rushwurm et al (1998)^Citation10	39	III-3	C
6.	Gelisken et al (1998)^Citation11	62	III-2	C
7.	Lam et al (1998)^Citation12	39	III-3	C
8.	Tiret et al (1997)^Citation13	176	III-3	B
9.	Traboulsi et al (1996)^Citation14	51	III-3	C
10.	Rossato et al (1996)^Citation15	36	III-3	C
11.	Olea et al (1996)^Citation16	93	III-2	B
12.	Valanzano et al (1996)^Citation17	92	III-3	B
13. 14.	Hunt et al (1994)^Citation18	101	III-2	B
	Hodgson et al (1994)^Citation19	199	III-3	B
15.	Campbell et al (1994)^Citation20	70	III-3	C
16.	Chagas et al (1993)^Citation21	26	III-3	C
17.	Hickey-Dwyer et al (1993)^Citation22	28	III-3	C
18.	Bertario et al (1993)^Citation23	78	III-3	C
19.	Romania et al (1992)^Citation24	34	III-3	C
20.	Morton et al (1992)^Citation25	75	III-3	B
21.	Moore et al (1992)^Citation26	66	III-3	C
22.	Giardiello et al (1991)^Citation27	55	III-3	C
23.	Baba et al (1990)^Citation1	2025	III-2	B
24.	Polkinghorne et al (1990)^Citation28	131	III-3	B
25.	Iwama et al (1990)^Citation29	49	III-3	C
26.	Heyen et al (1990)^Citation30	148	III-3	B
27.	Chapman et al (1989)^Citation31	75	III-2	B
28.	Berk et al (1988)^Citation32	50	III-2	B

Figure 1 FAP-associated CHRPE screening recommendations.

Figure 2 Literature review search, selection and appraisal of studies.

Mirinezshad S, Mousavi F, Baghri M, Sepehri B, Ghavidel A, Ghojazadeh M. Congenital hypertrophy of the retinal pigment epithelium for diagnosis of familial adenomatous polyposis – the first FAP registry in Iran. Asian Pac J Cancer Prev. 2018;19(1):167–169.

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Chen C, Phillips K, Grist S. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. Fam Cancer. 2006;5(4):397–404.

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Tourino R, Conde-Freire R, Cabezas-Agricola J, et al. Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol Clin. 2004;25(2):101–112.

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Rushwurm I, Zehetmayer M, Dejaco C, Wolf B, Karner-Hanusch J. Ophthalmic and genetic screening in pedigrees with familial adenomatous polyposis. Am J Ophthalmol. 1998;125(5):680–686.

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Gelisken O, Yucel A, Guler K, Zorluoglu A. Ocular findings in familial adenomatous polyposis. Int Ophthalmol. 1998;21(4):205–208.

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Lam D, Kwok S, Kwok A, Liew C, Lau J, Pang C. Incidence and predictive value of congenital hypertrophy of retinal pigment epithelium in Chinese familial adenomatous polyposis patients. Chin Med J (Engl). 1998;111(3):278–281.

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Tiret A, Taiel-Sartral M, Tiret E, Laroche L. Diagnostic value of fundus examination in familial adenomatous polyposis. Br J Ophthalmol. 1997;81(9):755–758.

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Traboulsi E, Apostolides J, Giardiello F, et al. Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis. Ophthalmic Genet. 1996;17(4):167–174.

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Rossato M, Rigotti M, Grazia M, Turco AE, Bonomi L. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) and familial adenomatous polyposis (FAP). Acta Ophthalmol Scand. 1996;74(4):338–342.

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Olea J, Mateos J, Llompart A, Obrador A. Frequency of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Acta Ophthalmol Scand. 1996;74(1):48–50.

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Valanzano R, Cama A, Volpe R, et al. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis; novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations. Cancer. 1996;78(1):2400–2410.

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Hunt L, Robinson M, Hugkulstone C, et al. Congenital hypertrophy of the retinal pigment epithelium and mandibular osteomata as markers in familial colorectal cancer. Br J Cancer. 1994;70(1):173–176.

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Hodgson S, Bishop D, Jay B. Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis. J Med Genet. 1994;31(1):44–48.

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Campbell W, Spence R, Parks T. The role of congenital hypertrophy of the retinal pigment epithelium in screening for familial adenomatous polyposis. Int J Colorect Dis. 1994;9:191–196.

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Chagas C, Fidalgo P, Marins A, et al. Vale of congenital hypertrophy of the retinal pigment epithelium as diagnostic marker in familial adenomatous polyposis. Acta Med Port. 1993;6(7):303–306.

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Hickey-Dwyer M, Willoughby C. Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli. Eye (Lond). 1993;7:562–564.

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Bertario L, Russo A, Sala P, et al. Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol. 2003;21(9):1698–16707.

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Romania A, Zakov Z, Church J, Jagelman D. Retinal pigment epithelium lesions as a biomarker of disease in patients with familial adenomatous polyposis. A follow-up report. Ophthalmology. 1992;99(6):911–913.

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Morton D, Gibson J, Macdonald F, et al. Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis. Br J Surg. 1992;79(7):689–693.

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Moore A, Maher E, Koch D, Charles S. Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC). Ophthalmic Paediatr Genet. 1992;13(6):67–71.

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Giardiello F, Offerhaus G, Traboulsi E, et al. Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis. Gut. 1991;32(10):1170–1174.

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Baba S, Tsuchiya M, Watanabe I, Machida H. Importance of retinal pigmentation as a subclinical marker in familial adenomatous polyposis. Dis Colon Rectum. 1990;33(8):660–664.

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Polkinghorne P, Ritchie S, Neale K, Schoeppner G, Thomson J, Jay B. Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis. Eye (Lond). 1990;4:216–221.

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Iwama T, Mishima Y, Okamoto N, Inoue J. Association of congenital hypertrophy of the retinal pigment epithelium with familial adenomatous polyposis. Br J Surg. 1990;77(3):273–276.

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Heyen F, Jagelman D, Romania A, et al. Predictive value of congenital hypertrophy of the retinal pigment epithelium as a clinical marker for familial adenomatous polyposis. Colon Rectum. 1990;33:1003–1008.

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Chapman P, Church W, Burn J, Gunn A. Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis. BMJ. 1989;298(6670):353–354.

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Berk T, Cohen Z, Mcleod RS, Parker JA. Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis. Dis Colon Rectum. 1988;31(4):253–257.

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