Ophthalmological manifestations of familial adenomatous colon polyposis

• Published in: Russian ophthalmology of children no. 2; pp. 39 - 44
• Main Authors: Yarovoy, A.A., Kotelnikova, A.V., Yarovaya, V.A., Matyaeva, A.D., Krasnova, E.O.
• Format: Journal Article
• Language: English
• Published: 31.07.2023
• ISSN: 2307-6658
• DOI: 10.25276/2307-6658-2023-2-39-44

Purpose. To describe a rare clinical case of bilateral ophthalmic manifestations of familial adenomatous polyposis of the colon. Material and methods. A multimodal imaging complex was carried out, which included the following methods: photo registration on the fundus camera Visucam 500 (Zeiss, Germany) and pediatric retinal camera RetCam 3 (Clarity, USA). Results. Familial adenomatous polyposis (FAP) is a hereditary disease of the colon characterized by adenomatous colon polyps, which in 100% of cases malignize into adenocarcinoma without proper early management. There are some forms of FAP with the eye fundus signs, which can serve as a signal to suspect and diagnose this disease. We report a case of fundus pigment spots in siblings whose mother was diagnosed with genetically confirmed FAP. Conclusions. The presence of randomly scattered pigmented neoplasms in the fundus, shaped like a comet, may be a sign of FAP. All patients at risk with a family history of adenocarcinoma of the large intestine should undergo an ophthalmological examination as a screening diagnostic method. Key words: familial adenomatous polyposis, adenocarcinoma of the colon, fundus pigment spots