Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis

“…In general, four different types of CHRPE lesions have been described (Fig. 1) [14,15]. Type A lesions are oval pigmented lesions with surrounding pale halo and are specific for FAP [10,11].…”

Section: Introductionmentioning

confidence: 98%

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

et al. 2006

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“…CHRPE lesions in FAP patients are bilateral, multiple, oval, pigmented and smaller than 1–2 disk diameters. The oval pigmented CHRPE lesion with a pale halo containing depigmented lacunae (type A) is almost exclusively found in FAP [7]. The proportion of FAP patients with at least one CHRPE lesion of any size varied in different studies: 49% (36/73) [8], 58% (25/43) [9], 76% (25/33) [10], 78% (69/88) [11], 88% (85/97) [12], 91% (107/118) [13]or 92% (54/59) [6], yielding an average of 78% (401/511).…”

Section: Introductionmentioning

confidence: 99%

Congenital Hypertrophy of the Retinal Pigment Epithelium and <i>APC</i> Mutations in Chinese with Familial Adenomatous Polyposis

et al. 2001

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Mutations in the adenomatous polyposis coli gene (APC) often cause both congenital hypertrophy of the retinal pigment epithelium (CHRPE) and familial adenomatous polyposis (FAP). To investigate the 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 6 kindreds and their family members volunteered, along with 12 healthy control subjects selected among hospital visitors and staff. All were examined for dilated fundus by indirect ophthalmoscopy. Mutations in APC coding exons were detected by sequencing. In one FAP patient, a novel A insertion at codon 1023 was detected. Three previously reported mutations were detected in 6 FAP patients: a deletion of ACAAA at codon 1061, and 2 truncating point substitutions at codons 216 and 283. In 3 FAP patients, no APC mutation was found, suggesting that mutations in APC coding regions are not the sole cause of FAP or CHRPE. A total of 64 CHRPE lesions were found in FAP patients and some relatives with and without APC mutations. Contrary to most reports, APC mutations before exon 9 did cause CHRPE lesions, albeit relatively few.

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“…A number of authors have confirmed the high specificity (close to 1) of these retinal lesions but with a lower and more variable sensitivity (between 0.6 and 0.8) 1222 23 35 36 Until now no hypothesis has been proposed to explain the absence of retinal lesions in 20–40% of the FAP patients.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic value of fundus examination in familial adenomatous polyposis

Tiret

Taiel-Sartral

Tiret

et al. 1997

British Journal of Ophthalmology

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Background-Multiple, bilateral lesions of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in patients suVering from familial adenomatous polyposis (FAP) since 1980. This study aimed to determine a reliable diagnostic criterion, based on the size and number of retinal CHRPE lesions, allowing the screening of patient carriers of the gene responsible for FAP. Methods-32 control subjects and 144 patients belonging to 85 FAP families were studied, divided into 124 carriers of the genetic alteration and 20 non-carriers. Results-In carriers of the deleted gene, multiple, bilateral retinal lesions were consistently observed. Lesion situation, size, shape, and degree of pigmentation were variable however. A positive criterion for FAP was defined as the presence of at least four lesions whatever their size, or at least two lesions one of which is large. This criterion showed a high sensitivity (0.68) and a maximal specificity (1). Within each family, the retinal phenotypic expression was homogeneous. CHRPE lesions were observed in two thirds of the FAP families and absent from the remaining third. Conclusion-By using this new positive diagnostic criterion, fundus examination allows early detection of those children carrying the gene responsible for FAP in families positive at ocular examination. (Br J Ophthalmol 1997;81:755-758)

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Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis

Cited by 36 publications

References 13 publications

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Congenital Hypertrophy of the Retinal Pigment Epithelium and <i>APC</i> Mutations in Chinese with Familial Adenomatous Polyposis

Diagnostic value of fundus examination in familial adenomatous polyposis

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