Congenital hypertrophy of the retinal pigment epithelium in the patients with familial adenomatous polyposis colon (case report)

Abstract

Familial adenomatous polyposis is one of the most difficult to diagnose diseases in medical practice, at an early stage, multiple colorectal adenomas are clinically most often not manifested in any way, and at a later stage they inevitably transform into colorectal cancer. Poor clinical manifestation rarely make it possible to establish a diagnosis before the onset of malignancy, so extraintestinal symptoms can be a lifeline in the diagnosis of this disease. Congenital retinal pigment epithelium hypertrophy is a benign tumor that develops from the retinal pigment epithelium and can occur both in an isolated form and in patients with familial adenomatous polyposis of the colon. Unfortunately, in the Russian-language clinical literature there are practically no scientific papers devoted to this problem. Clinical case of patient P., 35 years old, who was routinely admitted to the surgical unit with a diagnosis of familial adenomatous polyposis is presented. During the additional examination, multiple tumor-like lesions of the eyes were revealed according to the type of hypertrophy of the retinal pigment epithelium. From the anamnesis, it was found out that in 2017 the patient underwent a check-up by an ophthalmologist, where an early pathological condition was detected for the first time, but the doctor’s attention was not paid to this clinical manifestation, and the patient was not subsequently referred for a consultation with a coloproctologist with suspicion of familial adenomatous polyposis.