Abstract
The presence of bilateral, multiple patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE) is cited as an early phenotypic marker of the familial adenomatous polyposis coli (FAPC) gene. However, the degree of concordance between CHRPE and the presence of familial adenomatous polyposis (FAP) has not been adequately assessed in individual families. We studied the eyes of 28 members of a single kindred spanning three generations with FAPC; 14 were affected and 14 unaffected but ’at risk’. Six affected and 8 unaffected at risk individuals possessed a total of 34 retinal lesions, 17 in each group. Two affected individuals and 1 at risk individual had the classical pattern of CHRPE associated with FAPC. The sensitivity of CHRPE as an ocular marker for FAPC in this kindred was 14.2%. Our findings have implications for the use of CHRPE for the pre-symptomatic screening of family members at risk of FAPC. Therefore, ocular examination should not replace colonoscopic screening in an individual at risk of FAPC.
Similar content being viewed by others
Article PDF
References
Gardner EJ, Richards C . Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyp-osis and osteomatosis. Am J Hum Genet 1953;5:139–47.
Bussey HJR . Familial polyposis coli. Baltimore: Johns Hopkins University Press, 1975.
Joslyn G, Carlson M, Thliveris A, Albertson H, Gelbert L, Samowitz W, et al. Identification of deletion mutants and three new genes at the familial polyposis locus. Cell 1991;66:601–13.
Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertson H, et al. Identification and characterisation of the familial adenomatous polyposis gene. Cell 1991;66:589–600.
Kinsler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661–4.
Nishisho I, Nakamura Y, Miki Y, Ando H, Horii A, Koyama K, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665–9.
Gardner EJ, Burt RW, Freston JW . Gastro-intestinal polyposis: syndromes and genetic mechanisms. West J Med 1980;132:488–99.
Blair NP, Trempe CL . Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. Am J Ophthalmol 1980;90:661–7.
Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE . The Gardner syndrome: significance of ocular features. Ophthalmology 1984;91:916–25.
Traboulsi EI, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJA, Yardley JH, et al. Prevalence and importance of pig-mented ocular fundus lesions in Gardner's syndrome. N Engl J Med 1987;316:661–7.
Trabousli EI, Maumenee IH, Krush AJ, Giardiello FM, Levin LS, Hamilton SR . Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndrome and in hereditary nonpolyposis colorectal cancer. Ophthalmology 1988;95:964–9.
Stein EA, Brady KD . Ophthalmologic and electro-oculo-graphic findings in Gardner's syndrome. Am J Ophthalmol 1988;106:326–31.
Lyons LA, Lewis RA, Strong LC, Zuckerbrod S, Ferrell RE . A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium. Am J Hum Genet 1988;42:290–6.
Trabousli EI, Maumenee IH, Krush AJ, Alcorn D, Giardiello FM, Burt RW, et al. Congenital hypertrophy of the retinal pigment epithelium predicts colorectal polyposis in Gardner's syndrome. Arch Ophthalmol 1990;108:525–6.
Diaz-Llopis M, Menezo JL . Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon. Am J Ophthalmol 1987;103:235–6.
Diaz-Llopis M, Menezo JL . Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Arch Ophthalmol 1988;106:412–3.
Lynch HT, Priluck I, Fitzsimmons ML . Congenital hypertrophy of retinal pigment epithelium in non-Gardner's polyposis kindreds. Lancet 1987;2:33.
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;31:253–7.
Baker RH, Heinemann MH, Miller HH, De Cosse JJ . Hyper-pigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis. Am J Med Genet 1988;31:427–35.
Chapman PD, Church W, Burn J, Gunn A . Congenital hypertrophy of the retinal pigment epithelium: a sign of familial adenomatous polyposis. BMJ 1989;298:353–4.
Romania A, Zakov ZN, McGannon E, Schroeder T, Heyden F, Jagelmen DG . Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Ophthalmology 1989;96:879–84.
Polkinghorne PJ, Ritchie S, Neale K, Schoeppner G, Thomson JPS, Jay BS . Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis. Eye 1990;4:216–21.
Reese AB, Jones IS . Benign melanomas of the retinal pigment epithelium. Am J Ophthalmol 1956;42:207–12.
Morton DG, Gibson J, Macdonald F, Brown R, Haydon J, Cullen R, et al. Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis. Br J Surg 1992;79:689–93.
Macdonald F, Morton DG, Rindl PM, Haydon J, Cullen R, Gibson J, et al. Predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population based study. BMJ 1992;304:869–72.
Burn J, Chapman P, Delhanty J, Wood C, Lalloo F, Cachon-Gonzalez MB, et al. The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium and DNA markers in risk calculations. J Med Genet 1991;28:289–96.
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.
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;77:273–6.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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 7, 562–564 (1993). https://doi.org/10.1038/eye.1993.122
Issue Date:
DOI: https://doi.org/10.1038/eye.1993.122
This article is cited by
-
Letter
Eye (1998)