Congenital hypertrophy of the retinal pigment epithelium (CHRPE) refers to a flat, well-demarcated ocular fundus lesion with clinically normal overlying retina. Presumed to be congenital, CHRPE has been described in children as young as age 3 months.1 Multiple pigmented ocular fundus lesions similar to those in CHRPE are often associated with familial adenomatous polyposis (FAP), with or without extracolonic manifestations, including osteomas, epidermal cysts, desmoid tumors, or malignant tumors of the liver, thyroid, or brain (Gardner's syndrome).2 Familial adenomatous polyposis is an autosomal-dominant inherited disorder in which patients invariably progress to develop adenocarcinoma of the colon. Prophylactic colectomy is routinely performed. The presence of multiple pigmented fundus lesions is a highly specific clinical genetic marker in individuals at risk for FAP, with or without extracolonic disease.1
We report a case of multiple pigmented fundus lesions observed 32 weeks after conception in a premature infant with previously unknown
Aiello LP, Traboulsi EI. Pigmented Fundus Lesions in a Preterm Infant With Familial Adenomatous Polyposis. Arch Ophthalmol. 1993;111(3):302–303. doi:10.1001/archopht.1993.01090030020012
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: