Abstract
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a common fundoscopic feature involving pigmented lesions at the level of the RPE. A prevalence of 1%–2% has been described in populations of European ancestries. The majority of CHRPEs have neither visual nor general health implications. However, the presence of multiple (i.e. more than three), bilateral, mixed pigmented and depigmented CHRPE is a specific and sensitive marker of a cancer predisposition syndrome, familial adenomatous polyposis (FAP). FAP is characterised by the presence of multiple colorectal adenomatous polyps and is caused by heterozygous mutations in the APC gene. The identification of CHRPE in this rare context is an important task. However, care must be taken not to subject significant numbers of individuals with CHRPE to unnecessary psychological harm, colonoscopy or genetic testing. Therefore, it is important to recognise—and exclude—some of the commonest ophthalmic reasons to misdiagnose FAP including ‘bear track’ patterns (whether unilateral or bilateral), single CHRPE or even a single unilateral group of CHRPEs.
Published Version
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