Congenital Hypertrophy of the Retinal Pigment Epithelium in Familial Adenomatous Polyposis
One hundred fifty-three members of 56 kindreds with familial adenomatous polyposis (FAP) underwent funduscopic examination for congenital hypertrophy of the retinal pigment epithelium (CHRPE). All patients underwent wide-angle fundus photography to document lesions, proctosigmoidoscopy to document p...
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| Veröffentlicht in: | Ophthalmology (Rochester, MN) MN), 1989-06, Vol.96 (6), p.879-884 |
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| creator | Romania, Anthony Zakov, Z. Nicholas McGannon, Ellen Schroeder, Thomas Heyen, Francoise Jagelman, David G. |
| description | One hundred fifty-three members of 56 kindreds with familial adenomatous polyposis (FAP) underwent funduscopic examination for congenital hypertrophy of the retinal pigment epithelium (CHRPE). All patients underwent wide-angle fundus photography to document lesions, proctosigmoidoscopy to document polyps, and examination for extracolonic manifestations. Ninety-seven patients were diagnosed as having FAP and 56 patients were offspring of FAP patients and thus at 50% risk of inheriting the disease. In two thirds of the kindreds, CHRPE could be used as a congenital phenotypic marker to predict the presence or development of polyps. In these kindreds, all patients with diagnosed FAP and 39% of the patients at risk had at least four CHRPE lesions. In one third of the kindreds, CHRPE could not be used as a predictive congenital marker, and in these kindreds all patients had zero to three total lesions of CHRPE. The presence of CHRPE did not correlate with any other extracolonic manifestations. In kindreds without any other extracolonic manifestations, CHRPE can still be present and can be used as a predictive congenital phenotypic marker. |
| doi_str_mv | 10.1016/S0161-6420(89)32822-3 |
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Nicholas ; McGannon, Ellen ; Schroeder, Thomas ; Heyen, Francoise ; Jagelman, David G.</creator><creatorcontrib>Romania, Anthony ; Zakov, Z. Nicholas ; McGannon, Ellen ; Schroeder, Thomas ; Heyen, Francoise ; Jagelman, David G.</creatorcontrib><description>One hundred fifty-three members of 56 kindreds with familial adenomatous polyposis (FAP) underwent funduscopic examination for congenital hypertrophy of the retinal pigment epithelium (CHRPE). All patients underwent wide-angle fundus photography to document lesions, proctosigmoidoscopy to document polyps, and examination for extracolonic manifestations. Ninety-seven patients were diagnosed as having FAP and 56 patients were offspring of FAP patients and thus at 50% risk of inheriting the disease. In two thirds of the kindreds, CHRPE could be used as a congenital phenotypic marker to predict the presence or development of polyps. In these kindreds, all patients with diagnosed FAP and 39% of the patients at risk had at least four CHRPE lesions. In one third of the kindreds, CHRPE could not be used as a predictive congenital marker, and in these kindreds all patients had zero to three total lesions of CHRPE. The presence of CHRPE did not correlate with any other extracolonic manifestations. In kindreds without any other extracolonic manifestations, CHRPE can still be present and can be used as a predictive congenital phenotypic marker.</description><identifier>ISSN: 0161-6420</identifier><identifier>EISSN: 1549-4713</identifier><identifier>DOI: 10.1016/S0161-6420(89)32822-3</identifier><identifier>PMID: 2544842</identifier><identifier>CODEN: OPHTDG</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adenomatous Polyposis Coli - complications ; Adolescent ; Adult ; Age Factors ; Biological and medical sciences ; Biopsy ; Child ; Female ; Fundus Oculi ; Gastroenterology. Liver. Pancreas. Abdomen ; Humans ; Hypertrophy - pathology ; Male ; Medical sciences ; Middle Aged ; Pedigree ; Photography ; Pigment Epithelium of Eye - abnormalities ; Proctoscopy ; Risk Factors ; Stomach. Duodenum. Small intestine. Colon. Rectum. 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Nicholas</creatorcontrib><creatorcontrib>McGannon, Ellen</creatorcontrib><creatorcontrib>Schroeder, Thomas</creatorcontrib><creatorcontrib>Heyen, Francoise</creatorcontrib><creatorcontrib>Jagelman, David G.</creatorcontrib><title>Congenital Hypertrophy of the Retinal Pigment Epithelium in Familial Adenomatous Polyposis</title><title>Ophthalmology (Rochester, MN)</title><addtitle>Ophthalmology</addtitle><description>One hundred fifty-three members of 56 kindreds with familial adenomatous polyposis (FAP) underwent funduscopic examination for congenital hypertrophy of the retinal pigment epithelium (CHRPE). All patients underwent wide-angle fundus photography to document lesions, proctosigmoidoscopy to document polyps, and examination for extracolonic manifestations. Ninety-seven patients were diagnosed as having FAP and 56 patients were offspring of FAP patients and thus at 50% risk of inheriting the disease. In two thirds of the kindreds, CHRPE could be used as a congenital phenotypic marker to predict the presence or development of polyps. In these kindreds, all patients with diagnosed FAP and 39% of the patients at risk had at least four CHRPE lesions. In one third of the kindreds, CHRPE could not be used as a predictive congenital marker, and in these kindreds all patients had zero to three total lesions of CHRPE. The presence of CHRPE did not correlate with any other extracolonic manifestations. In kindreds without any other extracolonic manifestations, CHRPE can still be present and can be used as a predictive congenital phenotypic marker.</description><subject>Adenomatous Polyposis Coli - complications</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Age Factors</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Child</subject><subject>Female</subject><subject>Fundus Oculi</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Humans</subject><subject>Hypertrophy - pathology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Photography</subject><subject>Pigment Epithelium of Eye - abnormalities</subject><subject>Proctoscopy</subject><subject>Risk Factors</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><subject>Tumors</subject><issn>0161-6420</issn><issn>1549-4713</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1r3DAQhkVpSbdpf0LAh1LSgxt92taphCVpCoGGNLn0IvQxTlRsyZW0hf331WaXvfYygnmfGQ0PQmcEfyGYdBc_ayFtxyk-H-RnRgdKW_YKrYjgsuU9Ya_R6oi8Re9y_o0x7jrGT9AJFZwPnK7Qr3UMTxB80VNzs10glRSX520Tx6Y8Q3MPxYca3fmnGUJprhZf25PfzI0PzbWe_eRrfOkgxFmXuMnNXZy2S8w-v0dvRj1l-HB4T9Hj9dXD-qa9_fHt-_rytrVskKXVfMCYjBxk74QjVAgjgeHBStoZOhDDHdWG9tYY6yghznBJCQaoFiw3mp2iT_u9S4p_NpCLmn22ME06QD1I9RKLjmFRQbEHbYo5JxjVkvys01YRrHZO1YtTtROmBqlenCpW584OH2zMDO44dZBY84-HXGerpzHpYH0-Yj3tcCd2a77uMagy_npIKlsPwYLzCWxRLvr_HPIP-WOTkA</recordid><startdate>19890601</startdate><enddate>19890601</enddate><creator>Romania, Anthony</creator><creator>Zakov, Z. Nicholas</creator><creator>McGannon, Ellen</creator><creator>Schroeder, Thomas</creator><creator>Heyen, Francoise</creator><creator>Jagelman, David G.</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19890601</creationdate><title>Congenital Hypertrophy of the Retinal Pigment Epithelium in Familial Adenomatous Polyposis</title><author>Romania, Anthony ; Zakov, Z. Nicholas ; McGannon, Ellen ; Schroeder, Thomas ; Heyen, Francoise ; Jagelman, David G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-a48001f4e97d5d1255b9e308c926b281b4d2ab27cbbcd211db49210ee101c4ba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Adenomatous Polyposis Coli - complications</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Age Factors</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Child</topic><topic>Female</topic><topic>Fundus Oculi</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Humans</topic><topic>Hypertrophy - pathology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Photography</topic><topic>Pigment Epithelium of Eye - abnormalities</topic><topic>Proctoscopy</topic><topic>Risk Factors</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Romania, Anthony</creatorcontrib><creatorcontrib>Zakov, Z. Nicholas</creatorcontrib><creatorcontrib>McGannon, Ellen</creatorcontrib><creatorcontrib>Schroeder, Thomas</creatorcontrib><creatorcontrib>Heyen, Francoise</creatorcontrib><creatorcontrib>Jagelman, David G.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Ophthalmology (Rochester, MN)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Romania, Anthony</au><au>Zakov, Z. Nicholas</au><au>McGannon, Ellen</au><au>Schroeder, Thomas</au><au>Heyen, Francoise</au><au>Jagelman, David G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital Hypertrophy of the Retinal Pigment Epithelium in Familial Adenomatous Polyposis</atitle><jtitle>Ophthalmology (Rochester, MN)</jtitle><addtitle>Ophthalmology</addtitle><date>1989-06-01</date><risdate>1989</risdate><volume>96</volume><issue>6</issue><spage>879</spage><epage>884</epage><pages>879-884</pages><issn>0161-6420</issn><eissn>1549-4713</eissn><coden>OPHTDG</coden><abstract>One hundred fifty-three members of 56 kindreds with familial adenomatous polyposis (FAP) underwent funduscopic examination for congenital hypertrophy of the retinal pigment epithelium (CHRPE). All patients underwent wide-angle fundus photography to document lesions, proctosigmoidoscopy to document polyps, and examination for extracolonic manifestations. Ninety-seven patients were diagnosed as having FAP and 56 patients were offspring of FAP patients and thus at 50% risk of inheriting the disease. In two thirds of the kindreds, CHRPE could be used as a congenital phenotypic marker to predict the presence or development of polyps. In these kindreds, all patients with diagnosed FAP and 39% of the patients at risk had at least four CHRPE lesions. In one third of the kindreds, CHRPE could not be used as a predictive congenital marker, and in these kindreds all patients had zero to three total lesions of CHRPE. The presence of CHRPE did not correlate with any other extracolonic manifestations. In kindreds without any other extracolonic manifestations, CHRPE can still be present and can be used as a predictive congenital phenotypic marker.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>2544842</pmid><doi>10.1016/S0161-6420(89)32822-3</doi><tpages>6</tpages></addata></record> |
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| identifier | ISSN: 0161-6420 |
| ispartof | Ophthalmology (Rochester, MN), 1989-06, Vol.96 (6), p.879-884 |
| issn | 0161-6420 1549-4713 |
| language | eng |
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| subjects | Adenomatous Polyposis Coli - complications Adolescent Adult Age Factors Biological and medical sciences Biopsy Child Female Fundus Oculi Gastroenterology. Liver. Pancreas. Abdomen Humans Hypertrophy - pathology Male Medical sciences Middle Aged Pedigree Photography Pigment Epithelium of Eye - abnormalities Proctoscopy Risk Factors Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors |
| title | Congenital Hypertrophy of the Retinal Pigment Epithelium in Familial Adenomatous Polyposis |
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