Fundus lesions of adenomatous polyposis.
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is the most frequent extraintestinal manifestation of familial adenomatous polyposis. Present in 70% of families with familial adenomatous polyposis, CHRPE is a highly reliable and early marker of the disease. Studies over the past 5 years have addressed the histologic characteristics of the pigmented fundus lesions, the definition of universal positive fundus criteria, and mostly the genotype-phenotype correlation. Indeed, the position of the mutation site of the APC (adenomatous polyposis coli) gene on chromosome 5 influences the retinal expressivity because CHRPE is present only if the mutation is located between exons 9 and 15. In CHRPE-positive families, fundus examination is simple, noninvasive, reproducible, inexpensive, and allows early detection of the mutant gene carriers. Knowing the CHRPE status of patients in a family with familial adenomatous polyposis helps to identify constitutional APC mutations. The combination of genetic analysis and fundus examination offers a 100% diagnostic predictability.
Tiret
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Department of Ophthalmology, Hôpital Saint Antoine-AP-HP, Paris, France.
Parc
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D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002895:Chromosomes, Human, Pair 5; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D017491:Genes, APC / Q000235:genetics; D006801:Humans; D006984:Hypertrophy / Q000151:congenital / Q000473:pathology; D009154:Mutation; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics