Association of choroidal coloboma, congenital hypertrophy of retinal pigmented epithelium and familial adenomatous polyposis: case report

Background: The choroidal coloboma is a congenital malformation that results from an anomaly of the embryonic fissure. This anomaly is frequently associated to numerous ocular and systemic anomalies, but rarely to familial adenomatous polyposis.

Methods: We report a 12 years-old boy, who consulted for severe visual impairment of the right eye. The clinical examination revealed a coloboma of the iris and choroid and numerous lesions of congenital hypertrophy of the retinal pigmentary epithelium while exploration of the digestive tract revealed the presence of familial adenomatous polyposis.

Conclusions: We discuss the physiopathological mechanisms of this rare case, associating on one hand a coloboma of iris and choroid and on the other hand a congenital hypertrophy of the retinal pigment epithelium and a familial adenomatous polyposis. To the best of our knowledge this association has never been described before. We also emphasize the importance of an ophthalmologic examination for screening familial adenomatous polyposis in a subject at risk.