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Congenital Hypertrophy of the Retinal Pigment Epithelium Predicts Colorectal Polyposis in Gardner's Syndrome

Congenital Hypertrophy of the Retinal Pigment Epithelium Predicts Colorectal Polyposis in... Abstract • We studied prospectively the utility of congenital hypertrophy of the retinal pigment epithelium as a predictor of colonic polyposis in offspring of patients with familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome). After they underwent initial indirect ophthalmoscopy, we followed up 34 individuals at 50% genetic risk for familial adenomatous polyposis with extracolonic manifestations due to an affected parent. All 34 obtained their first colorectal endoscopic examination during a follow-up period of up to 4 years. The 16 individuals who did not have congenital hypertrophy of the retinal pigment epithelium (aged 13 to 40 years; mean, 25 years) remained polyp free, while 14 of 18 individuals with congenital hypertrophy of the retinal pigment epithelium (aged 9 to 30 years; mean, 18 years) were found to have colorectal adenomatous polyposis. Our findings indicate that the presence of multiple patches of congenital hypertrophy of the retinal pigment epithelium in children and young adults at risk for familial adenomatous polyposis with extracolonic manifestations is a clinically useful predictor of colorectal polyposis. References 1. Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes . Am J Surg Pathol . 1986;10:871-887.Crossref 2. Bussey HR. Familial Polyposis Coli . Baltimore, Md: The Johns Hopkins University Press; 1975. 3. Blair NP, Trempe CL. Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome . Am J Ophthalmol . 1980;90:661-667. 4. Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE. The Gardner syndrome: significance of ocular features . Ophthalmology . 1984;91:916-925.Crossref 5. Traboulsi EI, Krush AJ, Gardner EJ, et al. Prevalence and importance of ocular fundus lesions in Gardner's syndrome . N Engl J Med . 1987;316:661-667.Crossref 6. Diaz Llopis M, Menezo JL. Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon . Am J Ophthalmol . 1987;103:235-236. 7. Traboulsi EI, Maumenee IH, Krush AJ, Giardiello FM, Levin LS, Hamilton SR. Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer . Ophthalmology . 1988;95:964-969.Crossref 8. 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;31:253-257.Crossref 9. Baker RH, Heinemann MH, Miller HH, De-Cosse JJ. Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis . Am J Med Genet . 1988;31:427-435.Crossref 10. Romania A, Zakov ZN, McGannon E, Schroeder T, Heyen F, Jagelman DG. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis . Ophthalmology . 1989;96:879-884.Crossref 11. Chapman PD. Church W, Burn J, Gunn A. Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis . Br Med J . 1989;298:353-354.Crossref 12. Lynch H, Priluck I, Fitzsimmons ML. Congenital hypertrophy of the retinal pigment epithelium in familial polyposis coli . Lancet . 1987;2:333.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Congenital Hypertrophy of the Retinal Pigment Epithelium Predicts Colorectal Polyposis in Gardner's Syndrome

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Publisher
American Medical Association
Copyright
Copyright © 1990 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1990.01070060073052
Publisher site
See Article on Publisher Site

Abstract

Abstract • We studied prospectively the utility of congenital hypertrophy of the retinal pigment epithelium as a predictor of colonic polyposis in offspring of patients with familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome). After they underwent initial indirect ophthalmoscopy, we followed up 34 individuals at 50% genetic risk for familial adenomatous polyposis with extracolonic manifestations due to an affected parent. All 34 obtained their first colorectal endoscopic examination during a follow-up period of up to 4 years. The 16 individuals who did not have congenital hypertrophy of the retinal pigment epithelium (aged 13 to 40 years; mean, 25 years) remained polyp free, while 14 of 18 individuals with congenital hypertrophy of the retinal pigment epithelium (aged 9 to 30 years; mean, 18 years) were found to have colorectal adenomatous polyposis. Our findings indicate that the presence of multiple patches of congenital hypertrophy of the retinal pigment epithelium in children and young adults at risk for familial adenomatous polyposis with extracolonic manifestations is a clinically useful predictor of colorectal polyposis. References 1. Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes . Am J Surg Pathol . 1986;10:871-887.Crossref 2. Bussey HR. Familial Polyposis Coli . Baltimore, Md: The Johns Hopkins University Press; 1975. 3. Blair NP, Trempe CL. Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome . Am J Ophthalmol . 1980;90:661-667. 4. Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE. The Gardner syndrome: significance of ocular features . Ophthalmology . 1984;91:916-925.Crossref 5. Traboulsi EI, Krush AJ, Gardner EJ, et al. Prevalence and importance of ocular fundus lesions in Gardner's syndrome . N Engl J Med . 1987;316:661-667.Crossref 6. Diaz Llopis M, Menezo JL. Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon . Am J Ophthalmol . 1987;103:235-236. 7. Traboulsi EI, Maumenee IH, Krush AJ, Giardiello FM, Levin LS, Hamilton SR. Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer . Ophthalmology . 1988;95:964-969.Crossref 8. 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;31:253-257.Crossref 9. Baker RH, Heinemann MH, Miller HH, De-Cosse JJ. Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis . Am J Med Genet . 1988;31:427-435.Crossref 10. Romania A, Zakov ZN, McGannon E, Schroeder T, Heyen F, Jagelman DG. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis . Ophthalmology . 1989;96:879-884.Crossref 11. Chapman PD. Church W, Burn J, Gunn A. Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis . Br Med J . 1989;298:353-354.Crossref 12. Lynch H, Priluck I, Fitzsimmons ML. Congenital hypertrophy of the retinal pigment epithelium in familial polyposis coli . Lancet . 1987;2:333.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Apr 1, 1990

References