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Ophthalmic Paediatrics and Genetics Volume 13, 1992 - Issue 2
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Original Article

Incidence and Significance of Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) in Familial Adenomatous Polyposis Coli (FAPC)

A. T. Moore Departments of Ophthalmology, Addenbrookes Hospital, Cambridge, UK
,
E. R. Maher Departments of Clinical Genetics, Addenbrookes Hospital, Cambridge, UK; Department of Pathology, Addenbrookes Hospital, Cambridge, UK
,
D. J. Koch Departments of Clinical Genetics, Addenbrookes Hospital, Cambridge, UK
&
S. J. Charles Departments of Ophthalmology, Addenbrookes Hospital, Cambridge, UK; Department of Pathology, Addenbrookes Hospital, Cambridge, UK
Pages 67-71 | Accepted 24 Feb 1992, Published online: 08 Jul 2009

Citations (16)

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Louis Antoine Bonnet, R Max Conway & Li-Anne Lim. (2022) Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) as a Screening Marker for Familial Adenomatous Polyposis (FAP): Systematic Literature Review and Screening Recommendations. Clinical Ophthalmology 16, pages 765-774.
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Kirk Packo & Morton F. Goldberg. (2021) Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view. Ophthalmic Genetics 42:5, pages 514-520.
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Elias I. Traboulsi, John Apostolides, Francis M. Giardiello, Anne J. Krush, Susan V. Booker, Stanley R. Hamilto & Irene E. Maumenee Hussels. (1996) Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis. Ophthalmic Genetics 17:4, pages 167-174.
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Articles from other publishers (13)

Yingna Liu & Anthony T. Moore. (2020) Congenital focal abnormalities of the retina and retinal pigment epithelium. Eye 34:11, pages 1973-1988.
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Shahzaib Rehan & Kyaw Aye. (2019) 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. Clinical & Experimental Ophthalmology 48:1, pages 98-116.
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James E. Elder & Winita Hardikar. 2017. The Eye in Pediatric Systemic Disease. The Eye in Pediatric Systemic Disease 263 293 .
Nathan A. Dahl, Amy Sheil, Sarah Knapke & James I. Geller. (2016) Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association. Journal of Pediatric Hematology/Oncology 38:5, pages e154-e157.
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Maria Giulia Cristofaro, Amerigo Giudice, Massimiliano Amantea, Umberto Riccelli & Mario Giudice. (2013) Gardner's syndrome: a clinical and genetic study of a family. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 115:3, pages e1-e6.
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Luca Ramaglia, Fabio Morgese, Mariagiovanna Filippella & Annamaria Colao. (2007) Oral and maxillofacial manifestations of Gardner’s syndrome associated with growth hormone deficiency: Case report and literature review. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 103:6, pages e30-e34.
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William L. Jones. 2007. Peripheral Ocular Fundus. Peripheral Ocular Fundus 14 121 .
W J Campbell, R A J Spence & T G Parks. (1994) Familial adenomatous polyposis. British Journal of Surgery 81:12, pages 1722-1733.
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Anne Tiret & Christine Parc. (1999) Fundus lesions of adenomatous polyposis. Current Opinion in Opthalmology 10:3, pages 168-172.
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Judith Karner-Hanusch, Brigitte Wolf, Martin Zehetmayer, Friedrich Wrba, Erich Roth & Christine Mannhalter. (2014) Screening by Genomic Linkage Studies and Mutation Analysis of Hereditary Adenomatous Polyposis Coli: Usefulness for Clinical Practice. World Journal of Surgery 20:5, pages 578-584.
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Johanna A. Joyce, Nicola J. Froggatt, Rhodri Davies, D. Gareth R. Evans, Richard Trembath, David E. Barton & Eamonn R. Maher. (2008) Molecular genetic analysis of exons 1 to 6 of the APC gene in non‐polyposis familial colorectal cancer. Clinical Genetics 48:6, pages 299-303.
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Sylviane Olschwang, Anne Tiret, Pierre Laurent-Puig, Martine Muleris, Rolland Parc & Gilles Thomas. (1993) Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75:5, pages 959-968.
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Marie U Hickey-Dwyer & C E Willoughby. (1993) Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli. Eye 7:4, pages 562-564.
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