Abstract
Familial polyposis coli (FPC) is hereditary condition that conveys a virtual 100% risk for the development of colon cancer in the untreated patient. A total of 56 patients with FPC underwent complete ophthalmic examination. Highly pleomorphic pigmented retinal lesions were identified bilaterally in 52% (n=29) and unilaterally in 14% (n=8) of our subjects. In all, 33 patients had one or more extracolonic expressions associated with FPC, including desmoids, osteomas, epidermoid cysts, lipomas, fibromas, and upper gastrointestinal tract polyps. In 15 patients, pigmented fundus lesions were the only extracolonic manifestations. No significant association between eye findings and other extracolonic manifestations could be established. The presence or absence of pigmented fundus lesions was found to cluster within families. Pigmented fundus lesions are probably a variably penetrant expression of the polyposis gene and do not appear to be specifically associated with subgroups of inherited polyposis syndromes such as Gardner's syndrome.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Berk T, Cohen Z, McLeod RS, Parker JA (1988) Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis. Dis Colon Rectum 31:253–257
Blair NP, Trempe CL (1980) Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. Am J Ophthalmol 90:661–667
Bodmer WF, Bailey CJ, Bodmer J, Bussey HJR, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, Sheer D, Solomon E, Spurr NK (1987) Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328:614–616
Buettner H (1975) Congenital hypertrophy of the retinal pigment epithelium. Am J Ophthalmol 79:177–189
Bussey HJR (1975) Familial polyposis. Johns Hopkins University Press, Baltimore, Maryland, p 11
Cabot RC (1935) Case records of the Massachusetts General Hospital: case 21061. N Engl J Med 212:263–267
Camiel MR, Mule JE, Alexander LL, Benninghoff DL (1968) Association of thyroid carcinoma with Gardner's syndrome in siblings. N Engl J Med 278:1056–1058
Cohen SB (1982) Familial polyposis coli and its extracolonic manifestations. J Med Genet 19:193–203
DeCosse JJ, Adams MB, Condon RE (1977) Familial adenomatous polyposis. Cancer 39:267–273
DeCosse JJ, Miller HH, Lesser MC (1989) Effect of wheat fiber and vitamins C and E on rectal polyps in patients with familial adenomatous polyposis. J Natl Cancer Inst 81:1290–1297
Gardner EJ (1962) Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas, and epidermal cysts. Am J Hum Genet 14:376–390
Gardner EJ, Plenk HP (1951) Hereditary pattern for multiple osteomas in a family group. Am J Hum Genet 4:31–36
Gardner EJ, Richards RC (1953) Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 5:139–147
Harned RK, Williams SM (1982) Familial polyposis coli and periampullary malignancy. Dis Colon Rectum 25:227–229
Jones TR, Nance FC (1987) Periampullary malignancy in Gardner's syndrome. Ann Surg 185:565–573
Keshegian AA, Enterline HT (1978) Gardner's syndrome with duodenal adenomas, gastric adenomyoma and thyroid papillary-follicular adenocarcinoma. Dis Colon Rectum 21:255–260
Leppert M, Dobbs M, Scambler P, O'Conell P, Nakamura Y, Stauffer D, Woodward S, Burt R, Hughes J, Garner EJ, Lathrop M, Wasmuth J, Laloud JM, White R (1987) The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 238:1411–1413
Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE (1984) The Gardner syndrome: significance of ocular features. Ophthalmology 91:916–924
Llopis MD, Menezo JC (1987) Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon. Am J Ophthalmol 103:235–236
Lyons LA, Lewis RA, Strong LC, Zuckerbrod S, Ferrell RE (1988) A genetic study of Gardner Syndrome and congenital hypertrophy of the retinal pigment epithelium. Am J Hum Genet 42:290–296
Naylor EW, Gardner EJ (1977) Penetrance and expressivity of the gene responsible for the Gardner syndrome. Clin Genet 11:381–393
Norris JL, Leasby GS (1976) An unusual case of congenital hypertrophy of the retinal pigment epithelium. Arch Ophthalmol 94:1910–1911
Pierce ER, Weisbord T, McKusick VA (1970) Gardner syndrome: formal genetics and statistical analysis of a large Canadian kindred. Clin Genet 1:65–80
Purcell JJ, Shields JA (1975) Hypertrophy with hyperpigmentation of the retinal pigment epithelium. Arch Ophthalmol 93:1122–1126
Sener SF, Miller HH, DeCosse JJ (1984) The spectrum of polyposis. Surg Gynecol Obstetr 159:525–532
Solomon E, Voss R, Hall V, Bodmer WE, Jass JR, Jeffreys AJ, Lucibello FC, Patel I, Rider SH (1987) Chromosome 5 allele loss in human colorectal carcinomas. Nature 328:616–619
Traboulsi EL, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJA, Yardley JH, Hamilton SR, Luk ED, Giardiello FM, Welsh SB, Hughes JP, Maumenee IH (1987) Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med 1987:316:661–667
Utsonomiya H, Nakamura T (1975) The occult osteomatous changes in the mandible in patients with familial polyposis coli. Br J Surg 62:45–51
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Heinemann, MH., Baker, R.H., Miller, H.H. et al. Familial polyposis coli: the spectrum of ocular and other extracolonic manifestations. Graefe's Arch Clin Exp Ophthalmol 229, 213–218 (1991). https://doi.org/10.1007/BF00167870
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00167870