Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Jan 27;19(1):167-169.
doi: 10.22034/APJCP.2018.19.1.167.

Congenital Hypertrophy of Retinal Pigment Epithelium for Diagnosis of Familial Adenomatous Polyposis - the First FAP registry in Iran

Seyed Kazem Mirinezhad  1 , Farideh Mousavi, Masood Baghri, Bita Sepehri, Ali Ghavidel, Morteza Ghojazadeh, Mohammad Hossein Somi
Affiliations

Congenital Hypertrophy of Retinal Pigment Epithelium for Diagnosis of Familial Adenomatous Polyposis - the First FAP registry in Iran

Seyed Kazem Mirinezhad et al. Asian Pac J Cancer Prev. .

Abstract

Objective: Familial adenomatous polyposis (FAP), an autosomal dominant inherited disorder is characterized by the presence of multiple adenomatous colorectal polyps, which can develop into cancer during early adulthood. Therefore, early diagnosis is essential. Most FAP patients have several extracolonic manifestations, including congenital hypertrophy of the retinal pigment epithelium (CHRPE). Whereas genetic markers may provide the main route to detection of ‘‘at risk’’ subjects , at present this approach is clearly limited and searches for a noninvasive phenotypic marker continue to be high priority.The aim of this study was to describe the pattern of distribution of CHRPE lesions and evaluate their diagnostic value in FAP patients and their family members in a local population. Methods: A total of 23 FAP patients and 26 relatives belonging to 12 families at high risk of developing FAP were subjected to colonoscopic and ophthalmological examination. Result: Retinal examinations demonstrated prevalences of CHRPE in FAP patents and their siblings of 78% and 38%, respectively. We were able to illustrate a significant correlation between FAP disease and the presence of retinal lesions. Sensitivity and specificity of CHRPE as a screening test to detect the presence of FAP are 78.3% and 61.5%, respectively, with a positive predictive value of 64.3% and a negative predictive value of 76.2 %. A “lesion form” significant difference was found between FAP and normal participants.Spearman nonparametric analysis revealed no correlation between age and number or size of lesions. Conclusion: Multiple CHRPE lesions are a diagnostic feature of FAP patients They are specific and sensitive clinical markers of this disease (specificity 60% and sensitivity 77%).

Keywords: Congenital hypertrophy of the retinal pigment epithelium; familial adenomatous polyposis; Iran.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Flowchart of the Inclusion/Exclusion Criteria
Figure 2
Figure 2
Grouped CHRPE: The Sectorial Pattern of Grouped CHRPE with Smaller and Lager Lesions in the Periphery (OS) with Peripheral Halo Depigmentation.
See this image and copyright information in PMC

References

    1. Aihara H, Kumar N, Thompson CC. Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis:rationale and update. Eur J Gastroenterol Hepatol. 2014;26:255–62. - PMC - PubMed
    1. Anne T, Christine P. Fundus lesions of adenomatous polyposis. Curr Opin Ophthalmol. 1999;10:168–72. - PubMed
    1. Chen CS, Phillips KD, Grist S, et al. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. Familial Cancer. 2006;5:397–404. - PubMed
    1. Coleman P, Barnard NA. Congenital hypertrophy of the retinal pigment epithelium:prevalence and ocular features in the optometric population. Ophthalmic Physiol Opt. 2007;27:547–55. - PubMed
    1. Cruz-Correa M, Giardiello FM. Familial adenomatous polyposis. Gastrointest Endosc. 2003;58:885–94. - PubMed