Congenital hypertrophy of the retinal pigment epithelium serves as a clinical marker in a family with familial adenomatous polyposis.
BACKGROUND
Familial adenomatous polyposis (FAP) is characterized by the development of multiple adenomatous polyps of the large intestine and gastrointestinal tract. FAP leads to colon malignancy in 100 percent of untreated cases. Congenital hypertrophy of the retinal pigment epithelium (CHREPE) has been identified as a potential early clinical marker for FAP.


METHODS
Two generations received ocular examinations. One subject demonstrated CHRPE and was already known to have inherited FAP. His son showed typical CHRPE lesions associated with FAP and has most likely inherited the FAP gene.


RESULTS
This case report of a family with autosomal dominant familial adenomatous polyposis (FAP) demonstrates the role of CHRPE as a useful early detector of the inheritance of the FAP gene.


CONCLUSIONS
Early intervention (ocular and colorectal examinations) and treatment (colectomy) is advocated to prevent malignancy.
Parisi
M L
ML
Pennsylvania College of Optometry, Eye Institute, Philadelphia 19141-3399.
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D005654:Fundus Oculi; D017491:Genes, APC; D006801:Humans; D006984:Hypertrophy / Q000151:congenital; D008297:Male; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*
D015415:Biomarkers