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- W3147774710 abstract "In 1980 an aSSOcIatIOn between congenital hypertrophy of the retinal pigment epithelium (CHRP E) and Gardner's syndrome was described,l and this association was later confirmed by other workers. 2-6 Gardner's syn drome is characterised by intestinal adenoma tous polyposis and various soft tissue and bony tumours, transmitted as an autosomal dominant trait. More recently it has become apparent that CHRP E occurs in patients with familial adenomatous polyposis without the other extracolonic manifestations described in Gardner's syndrome.7-12 The term Gard ner's, syndrome has tended to be replaced by familial adenomatous polyposis. Familial adenomatous polyposis is a syn drome characterised by the occurrence of multiple adenomas in the gastrointestinal tract. These polyps, which usually exceed 500 and may be as numerous as 10,000 in the large bowel alone, have considerable potential for malignant transformation.13 The polyps are often evident from early adult life but may not become manifest until the fourth decade of life. For individuals at risk of developing the disorder, screening by sigmoidoscopy is recommended annually from the age of 14 years. Affected individuals are usually man aged by removing the greater part or all the large intestine as a prophylactic measure to prevent the development of large intestinal carcinoma. 14 Although the association of CHRP E and familial adenomatous polyposis is now well established, some of the features of the pig mented fundus lesions remain unclear and warrant further study. It has not been estab lished whether these lesions change with age, nor is it clear if they are found in individuals at risk of developing polyposis. Furthermore considerable variation in the prevalence of retinal lesions in affected individuals has been" @default.
- W3147774710 created "2021-04-13" @default.
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- W3147774710 date "2011-01-01" @default.
- W3147774710 modified "2023-09-26" @default.
- W3147774710 title "Pigmented Lesions of the Retinal Pigment Epithelium and Familial Adenomatous Polyposis" @default.
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