Congenital hypertrophy of retinal pigment epithelium: A marker in familial adenomatous polyposis;L'hypertrophie congenitale de l'epithelium pigmente retinien: Un marqueur de la polypose adenomateuse familiale

Journal Francais d'Ophtalmologie

Volumn 22, Issue 3, 1999, Pages 364-370

  Szwarcberg, J ^a   Limacher, J M ^a   Pricker, J P ^b   Flament, J ^a  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b CENTRE PAUL STRAUSS   (France)

Author keywords

APC gene; Congenital hypertrophy of retinal pigment epithelium; Familial adenomatous polyposis; Gardner's syndrome; Turcot's syndrome

Indexed keywords

ADENOMATOUS POLYP; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER DIAGNOSIS; CANCER FAMILY; CANCER GENETICS; CANCER RISK; CANCER SUSCEPTIBILITY; DISEASE MARKER; DISEASE SEVERITY; HUMAN; HYPERTROPHY; MALIGNANT TRANSFORMATION; PHENOTYPE; PIGMENT EPITHELIUM; RETINA EXAMINATION; ADOLESCENT; ADULT; CHILD; CLASSIFICATION; COLON POLYPOSIS; FEMALE; GENETIC MARKER; GENETICS; GENOTYPE; HOSPITALIZATION; MALE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; RISK FACTOR; SENSITIVITY AND SPECIFICITY;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENOTYPE; HUMANS; HYPERTROPHY; MALE; PEDIGREE; PHENOTYPE; PIGMENT EPITHELIUM OF EYE; RISK FACTORS; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX;

EID: 0033005413     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Leppert M, Burt R, Hughes JP et al. Genetic analysis of an inherited predisposition to colon cancer in a family with variable number of adenomatous polyps. N Engl J Med 1990;322(13): 904-8.
2. Blair NP, Trempe CL. Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. Am J Ophthalmol 1980;90:661-7.
3. Muller A, Meyenberger C, Hoppeler T et al. Turcot-Syndrom - eine rare extraintestinale Manifestation der familiären adenomatösen Polypose (FAP)? Schweiz Med Wochenschr 1993;123:1125-7.
4. Boman BM, Levin G. Familial polyposis. Hosp Pract (Off Ed) 1986;21:155-70.
5. Bunyan DJ, Shea-Simonds J, Reck AC, Finnis D, Eccles DM. Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. J Med Genet 1995;32:728-31.
6. Burn J, Chapman P, Delhanty J 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.
7. Groden J, Thliveris A, Samowitz W et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
8. Rustin RB, Jagelman DG, McGannon E et al. Spontaneous mutation in familial adenomatous polyposis. Dis Colon Rectum 1990;33:52-5.
9. Flament J, Storck D. Œil et pathologie générale. Soc Fr Ophtalmol, rapport annuel. Paris, Milan, Barcelone: Masson, 1997: 848 p. Chap. 14, Pathologie de l'appareil digestif, p 537-630.
10. Munden PM, Sobol WM, Weingeist TA. Ocular findings in Turcot syndrome (glioma-polyposis). Ophthalmology 1991;98:111-4.
11. Cottrell S, Bicknell D, Karlamanis L, Bodmer WF. Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 1992;340(8820):626-9.
12. Cross I, Delhant YJ, Chapman P. et al. An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J Med Genet 1992;29:175-9.
13. Kintzler KW, Nilbert MC, Vogelstein B et al. Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science 1991;251:1366-70.
14. Joslyn G, Carlson M, Thliveris A. et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991;66:601-13.
15. Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE. The Gardner syndrome. Significance of ocular features. Ophthalmology 1984;91:916-25.
16. Olea JL, Maetos JM, Llompart A, Obrador A. Frequency of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Acta Ophthalmol Scand 1996;74:48-50.
17. Traboulsi El, Maumenee IH, Krush AJ et al. Congenital hypertrophy of the retinal pigment epithelium predicts colorectal polyposis in Gardner's syndrome. Arch Ophthalmol 1990;108:525-6.
18. Milazzo S, Scard D, Mathieu M, Turut P. L'examen du fond d'œil dans le dépistage du syndrome de Gardner. J Fr Ophtalmol 1993;16:651-6.
19. Heinemann MH, Baker RH, Miller HH, De Cosse JJ. Familial polyposis coli: the spectrum of ocular and other extracolonic manifestations. Graefes Arch Clin Exp Ophthalmol 1991;229:213-8.
20. 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;31:55-8.
21. Romania A, Zakov ZN, Church JM et al. Retinal pigment epithelium lesions as a biomarker of disease in patients with familial adenomatous polyposis. A follow-up study. Ophthalmology 1992;99:911-3.
22. 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;74:338-42.
23. 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;4:337-40.
24. Olschwang S, Tiret A, Laurent-Puig P et al. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 1993;75:959-68.
25. Traboulsi El, Apostolides J, Giardiello FM et al. Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis. Ophthalmic Genet 1996;17:167-74.
26. Ziskind A, Grobbelaar J, Kotze MJ. The relationship between congenital hypertrophy of the pigment epithelium (CHRPE) and mutations in the adenomatous polyposis coli (APC) gene. Invest Ophthalmol Vis Sci, ARVO abstracts, 1997;38,S798:3705.