Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome

Abstract

Purpose of reviewTo illustrate retinal pigment epithelium hamartomas (RPEHs) in a patient with known Turcot syndrome and to demonstrate the significance of these lesions in other colonic polyposis syndromes. Recent findingsThe presence of multiple, bilateral RPEHs is a specific marker for familial adenomatous polyposis (FAP). Recent studies have noted RPEHs in associated syndromes including Gardner and Turcot syndromes. Herein, we illustrate an 18-year-old male patient with known brain medulloblastoma who was documented 7 years later to have asymptomatic RPEHs in both eyes, demonstrating hypo-autofluorescence. SummaryThis patient with previous medulloblastoma and known Turcot syndrome was later found to have typical RPEHs, a feature that is important in family screening. Confirmation of RPEHs related to Turcot syndrome was made, and genetic evaluation confirmed germline mutation in the adenomatous polyposis coli (APC) gene. Observation was advised. Due to the fairly rapid progression to colorectal cancer if untreated, ophthalmologists should be aware that RPEHs can be the first extracolonic manifestation of FAP, Gardner syndrome, and Turcot syndrome.

Long-term follow-up of torpedo maculopathy: a case series and mini-review

“…Because the diagnosis of TM is made based on the clinical features of the condition, it is necessary to consider a variety of other retinal lesions that may share some features with TM before a diagnosis can be made. Conditions included in the differential diagnosis of TM are chorioretinal scar, congenital hypertrophy of the RPE, Gardner syndrome [ 27 ], and other syndromes associated with torpedo-like retinal lesions (such as Turcot syndrome [ 28 ], congenital Zika virus infection [ 29 ], and enhanced S-cone syndrome [ 30 ]).…”