Abstract
Significant confusion currently exists in the literature regarding the association between congenital hypertrophy of the retinal pigment epithelium and familial adenomatous polyposis. In this case, a 5-year-old female presented with concern of familial adenomatous polyposis/Gardner syndrome after retinal lesions were found in her left eye. She had no past medical history and no familial history of cancer. Her visual acuity was 20/20 in both the left and right eyes. Dilated fundus exam revealed congenital hypertrophy of retinal pigment epithelium appearance in the left eye. Retinal imaging confirmed clusters of round lesions. The patient was diagnosed with grouped congenital hypertrophy of retinal pigment epithelium, which is not associated with familial adenomatous polyposis. No treatment was required, and follow-up was recommended in 1 year.
| Original language | English |
|---|---|
| Title of host publication | Clinical Cases in Ocular Oncology |
| Subtitle of host publication | Differential Diagnosis and Management |
| Publisher | Elsevier |
| Pages | 294-297 |
| Number of pages | 4 |
| ISBN (Electronic) | 9780443120497 |
| ISBN (Print) | 9780443120749 |
| DOIs | |
| State | Published - Jan 1 2024 |
Keywords
- congenital hypertrophy of retinal pigment epithelium
- familial adenomatous polyposis
- pigmented ocular fundus lesion
- retinal lesion