A Closer Look: Familial Adenomatous Polyposis Suspected Through Ophthalmological Findings in an Adolescent
Year: 2025
Type: article
Study design: Case Report
Abstract: Familial adenomatous polyposis (FAP) is a hereditary condition characterized by the early onset of hundreds to thousands of adenomatous colorectal polyps, with a high risk of colorectal cancer if untreated. While genetic testing and gastrointestinal symptoms often prompt diagnosis, certain extraintestinal manifestations, such as congenital hypertrophy of the retinal pigment epithelium (CHRPE), may offer early diagnostic clues. This case describes a female adolescent whose initial complaint was decreased visual acuity. This prompted an examination that revealed bilateral pigmented retinal lesions consistent with CHRPE, which subsequently led to the suspicion of FAP, despite the absence of gastrointestinal complaints or known familial mutations. Subsequent genetic testing confirmed a pathogenic variant in the APC gene, and colonoscopy revealed extensive polyposis. This case highlights the importance of recognizing ophthalmological manifestations as potential early indicators of inherited colorectal cancer syndromes. It also underscores the relevance of a multidisciplinary approach in managing complex hereditary diseases, with respect for patient autonomy and shared decision-making.
Source: Cureus
DOI: 10.7759/cureus.82857
Authors: João D Freitas, Miguel R Ferreira, Daniela Mota, Sara Marante, Sandra Matapa
Institution: Unidade Local de Saúde do Tâmega e Sousa
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409721506