Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.
| Title: | Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience. |
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| Authors: | Nusliha A; Dalpatadu U; Amarasinghe B; Chandrasinghe PC; Deen KI; Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka. radihan@mail.ewisl.net. |
| Source: | BMC research notes [BMC Res Notes] 2014 Oct 18; Vol. 7, pp. 734. Date of Electronic Publication: 2014 Oct 18. |
| Publication Type: | Evaluation Study; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Biomed Central Country of Publication: England NLM ID: 101462768 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-0500 (Electronic) Linking ISSN: 17560500 NLM ISO Abbreviation: BMC Res Notes Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London : Biomed Central, 2008. |
| MeSH Terms: | Ophthalmoscopy*; Adenomatous Polyposis Coli/*diagnosis ; Retinal Diseases/*diagnosis ; Retinal Pigment Epithelium/*abnormalities; Adenomatous Polyposis Coli/genetics ; Retinal Diseases/congenital ; Adolescent ; Adult ; Feasibility Studies ; Female ; Genetic Predisposition to Disease ; Heredity ; Humans ; Hypertrophy ; Male ; Middle Aged ; Pedigree ; Phenotype ; Predictive Value of Tests ; Registries ; Slit Lamp ; Young Adult |
| Abstract: | Background: Familial Adenomatous Polyposis (FAP) is an autosomal dominant condition giving rise to multiple adenomatous polyps in the colon which invariably become malignant by the fourth decade. Congenital hypertrophy of retinal pigment epithelium (CHRPE) is one of its extra intestinal manifestations early in childhood seen, present in 90% of FAP population and is easy to detect.; Findings: Patients diagnosed with FAP and at risk first degree family members were screened for CHRPE using a slit lamp and indirect ophthalmoscopy. The retina of 17 diagnosed FAP patients and 13 individuals at risk were examined. The site and size of CHRPE lesions were documented. Thirteen (76%) of 17 FAP patients (male-10, female - 7, median age - 30 years; range 15-55 years) had CHRPE lesions; seven (54%) had bilateral CHRPE lesions and six (46%) had unilateral lesions. A single lesion was detected in 6 (46%) while 7 (54%) patients had multiple lesions. Of 13 at risk individuals (7- male, female-6 ; median age 34; range 16-52 years), one was positive for CHRPE and 12 were free of retinal lesions. The sensitivity of the presence of a CHRPE lesion in association with colonic polyps in FAP was 76%, specificity 92%, positive predictive value 93%, and negative predictive value 75%.; Conclusions: This study found a high sensitivity and specificity for a CHRPE lesion to be associated with colonic polyps of FAP and hence a useful screening method in a burdened health-care system. The method is minimally invasive and simple and would be of particular value in screening children at risk for FAP. |
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| Entry Date(s): | Date Created: 20141019 Date Completed: 20150626 Latest Revision: 20250608 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC4210554 |
| DOI: | 10.1186/1756-0500-7-734 |
| PMID: | 25326340 |
| Database: | MEDLINE |
Evaluation Study; Journal Article