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Congenital Hypertrophy of the Retinal Pigment Epithelium and Familial Adenomatous Polyposis

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Ophthalmologica

Original Paper · Travail original · Originalarbeit

Congenital Hypertrophy of the Retinal Paint Epithelium and APC Mutations in Chinese with Familial Adenomatous Polyposis

Pang C.P.a · Fan D.S.P.a · Keung J.W.Y.a · Baum L.a · Tang N.L.S.b · Lau J.Due west.Y.c · Lam D.S.C.a

Departments of aOphthalmology and Visual Sciences, bChemic Pathology, and cSurgery, The Chinese University of Hong Kong, China

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Ophthalmologica 2001;215:408–411

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Article / Publication Details

First-Page Preview

Abstract of Original Paper · Travail original · Originalarbeit

Published online: November 30, 2001
Issue release date: November – December

Number of Print Pages: four
Number of Figures: 0
Number of Tables: two

ISSN: 0030-3755 (Print)
eISSN: 1423-0267 (Online)

For additional information: https://world wide web.karger.com/OPH

Abstract

Mutations in the adenomatous polyposis coli gene (APC) often cause both built hypertrophy of the retinal paint epithelium (CHRPE) and familial adenomatous polyposis (FAP). To investigate the human relationship between APC mutations, CHRPE and FAP, all FAP patients at the Prince of Wales Hospital, Hong Kong, were asked to participate in a study. Ten Chinese patients from half-dozen kindreds and their family unit members volunteered, forth with 12 healthy control subjects selected amidst hospital visitors and staff. All were examined for dilated fundus past indirect ophthalmoscopy. Mutations in APC coding exons were detected past sequencing. In one FAP patient, a novel A insertion at codon 1023 was detected. Three previously reported mutations were detected in half-dozen FAP patients: a deletion of ACAAA at codon 1061, and two truncating point substitutions at codons 216 and 283. In 3 FAP patients, no APC mutation was constitute, suggesting that mutations in APC coding regions are not the sole cause of FAP or CHRPE. A total of 64 CHRPE lesions were constitute in FAP patients and some relatives with and without APC mutations. Contrary to near reports, APC mutations before exon 9 did cause CHRPE lesions, albeit relatively few.

© 2001 Due south. Karger AG, Basel

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Article / Publication Details

Starting time-Page Preview

Abstract of Original Paper · Travail original · Originalarbeit

Published online: November xxx, 2001
Issue release date: November – Dec

Number of Print Pages: 4
Number of Figures: 0
Number of Tables: 2

ISSN: 0030-3755 (Print)
eISSN: 1423-0267 (Online)

For boosted data: https://www.karger.com/OPH

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