In patients with a positive family history of familial adenomatous polyposis can the condition be diagnosed from the presence of congenital hypertrophy of the retinal pigment epithelium detected via an eye examination: A systematic review.
CHRPE
FAP
colorectal cancer diagnostics
colorectal surgery
gastroenterology
genetics
ophthalmology
screening
Journal
Clinical & experimental ophthalmology
ISSN: 1442-9071
Titre abrégé: Clin Exp Ophthalmol
Pays: Australia
ID NLM: 100896531
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
01
06
2019
revised:
05
09
2019
accepted:
09
09
2019
pubmed:
17
9
2019
medline:
5
6
2021
entrez:
17
9
2019
Statut:
ppublish
Résumé
In classic familial adenomatous polyposis (FAP) adenomas become malignant. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a retinal pigmented lesion and is the earliest and most common potential extraintestinal manifestation of FAP. This review aims to summarize and analyse all of the published data on CHRPE in patients with classic FAP and then ascertain whether these patients should undergo a relatively cheap and non-invasive dilated fundus examination to screen for CHRPE. Adhering to Preferred Reporting Items for Systematic Reviews and Meta Analyses guidelines our database search identified 102 relevant articles of which 13 were selected for further analysis. The percentage of FAP patients with CHRPE was found to be 80.00%, whereas the percentage of at-risk patients with CHRPE was 31.12%. Despite various statistically significant findings, CHRPE alone cannot be used as a surrogate for diagnosing FAP in those with a positive family history. The authors advocate a combined approach of eye examinations, colonoscopy and genetic testing.
Types de publication
Journal Article
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
98-116Informations de copyright
© 2019 Royal Australian and New Zealand College of Ophthalmologists.
Références
Touriño R, Conde-Freire R, Cabezas-Agrícola JM, et al. Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol. 2004;25(2):101-112.
Wallis YL, Macdonald F, Hulten M, et al. Genotype phenotype correlation between position of constitutional APC gene mutation and CHRPE expressed in FAP. Hum Gen. 1994;94:543-548.
Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis. 2009;12(4):22.
Nusliha A, Dalpatadu U, Amarasinghe B, Chandrasinghe P, Deen K. Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP): a polyposis registry experience. BMC Res Notes. 2014;7:734.
Katsanos KH, Syrrou M, Tsianos EV. The value of opthalmic examinations in familial adenomatous polyposis syndrome screening. Ann Gastroenterol. 2003;16(4):287-299.
Morale SA, Hernandez-Quintela E, Jimenez-Sierra JM, et al. Congenital hypertrophy of the retinal pigment epithelium associated with familial adenomatous polyposis. Retina. 1994;14:6-9.
Pang CP, Keung JW, Tang NL, Fan DS, Lau JW, Lam DS. Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis. Eye. 2000;14:18-22.
The College of Optometrists. Pigmented fundus lesions; 2017. Available at: https://www.college-optometrists.org/guidance/clinical-management-guidelines/pigmented-fundus-lesions.html. Accessed January 20, 2018.
Moher D, Liberati A, Tetzlaff J, Altman DG, PRISMA Group. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. J Clin Epidemiol. 2009;62(10):1006-1012.
OCEBM Levels of Evidence Working Group, Durieux N, Pasleau F, Howick J. The Oxford 2011 levels of evidence, Group; 2011:5653. http://www.cebm. net/index.aspx?o.1025
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 Aug;74(4):338-342.
Morton DG, 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.
Campbell WJ, Spence RA, Parks TG. The role of congenital hypertrophy of the retinal pigment epithelium in screening for familial adenomatous polyposis. Int J Colorectal Dis. 1994;9(4):191-196.
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.
Heyen F, Jagelman DG, Romania A, et al. Predictive value of congenital hypertrophy of the retinal pigment epithelium as a clinical marker for familial adenomatous polyposis. Dis Colon Rectum. 1990;33(12):1003-1008.
Hickey-Dwyer MU, Willoughby CE. 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(Pt 4):562-564.
Parisi ML. Congenital hypertrophy of the retinal pigment epithelium serves as a clinical marker in a family with familial adenomatous polyposis. J Am Optom Assoc. 1995;66(2):106-112.
Chen CS, Phillips KD, Grist S, et al. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. Fam Cancer. 2006;5(4):397-404.
Mirinezhad SK, Mousavi F, Baghri M, et al. Congenital hypertrophy of retinal pigment epithelium for diagnosis of familial adenomatous polyposis - the first FAP registry in Iran. Asian Pac J Cancer Prev. 2018 Jan 27;19(1):167-169.
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(11):2400-2410.
Bertario L, Bandello F, Rossetti C, et al. Congenital hypertrophy of retinal pigment epithelium (CHRPE) as a marker for familial adenomatous polyposis (FAP). Eur J Cancer Prev. 1993;2(1):69-75.
Llopis MD, Menero JL. Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon. Am J Ophthalmol. 1987;103:235-236.
Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66(3):589-600.
Bowel Cancer UK. New NHS study expected to almost halve number of endoscopies by 2020; 2017. Available at: https://www.bowelcanceruk.org.uk/news-and-blogs/news/nhs-study-finds-new-screening-test-could-almost-halve-endoscopy-procedures-by-2020/. Accessed September 1, 2018.
Dunlop MG. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jegherssyndrome. Gut. 2002;51(Suppl 5):V21-7.
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.
Hodgson SV, Bishop DT, 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):55-58.
Baker RH, Heinemann MH, Miller HH, De Cosse JJ. Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis. Am J Med Genet. 1998;31:427-435.
Giardiello FM, Brensinger JD, Luce MC, et al. Phenotypic expression of disease in families that have mutations in the 5′ region of the adenomatous polyposis coli gene. Ann Intern Med. 1997;126(7):514-519.
Lynch HT, Smyrk T, McGinn T, et al. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer. 1995;76(12):2427-2433.
Parc Y, Piquard A, Dozois RR, Parc R, Tiret E. Long-term outcome of familial adenomatous polyposis patients after restorative coloproctectomy. Ann Surg. 2004;239(3):378-382.
Polkinghorne PJ, Ritchie S, Neale K, Schoeppner G, JPS T, Jay BS. Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis. Eye. 1990;4:216-221.
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;77:273-276.
Moore AT, Maher ER, Koch DJ, Charles SJ. Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC). Ophthalmic Paediatr Genet. 1992;13:67-71.
Macdonald F, Morton DG, Rindl PM, et al. Predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population-based study. BMJ. 1992;304:869-872.
Caspari R, Olschwang S, Friedl W, et al. Familial adenomatous polyposis desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Gen. 1994;4:337-340.
Caspari R, Olschwang S, Friedl W, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet. 1995;4(3):337-340.
Shanmugam PM, Konana VK, Ramanjulu R, Mishra KCD, Sagar P, Simakurthy S. Ocular coherence tomography angiography features of congenital hypertrophy of retinal pigment epithelium. Indian J Ophthalmol. 2019;67(4):563-566.
Fung AT, Pellegrini M, Shields CL. Congenital hypertrophy of the retinal pigment epithelium: enhanced-depth imaging optical coherence tomography in 18 cases. Ophthalmology. 2014;121(1):251-256.
Raval V, Dalal S, Doshi S, Das T. Multimodal imaging of congenital hypertrophy of retinal pigment epithelium (CHRPE) lesions at different presentations. Ophthalmol Case Rep. 2019;3(1):1-4.
Traboulsi EI, Murphy SF, de la Cruz ZC, Maumenee IH, Green WR. A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome). Am J Ophthalmol. 1990;110(5):550-561.
FODO (Federation of Ophthalmic and Dispensing Opticians). NHS sight test fees; 2018. Available at: http://www.fodo.com/resource-categories/nhs-sight-test-fees. Accessed September 1, 2018.
The College of Optometrists. Frequency of eye examinations; 2019. Available at: https://guidance.college-optometrists.org/guidance-contents/knowledge-skills-and-performance-domain/the-routine-eye-examination/frequency-of-eye-examinations/. Accessed July 21, 2019.
Ahuja AS, Halperin LS. Understanding the advent of artificial intelligence in ophthalmology. J Curr Ophthalmol. 2019;31(2):115-117.