It may seem out of the ordinary but do not be surprised if your eye doctor asks when you last had a colonoscopy. If during your dilated routine eye exam, your doctor sees dark pigmentation in the retina or in the rare case lesions, they would be prudent to ask such a question. Dark pigmentation in the retina discovered by retinal photography such as an Optomap could signify Gardner Syndrome. Gardner Syndrome, a systemic disease is a condition in which multiple, dark areas of pigmentation form in the retinas of the eyes and in rare cases these lesions may be associated with certain types of colon cancer.
Your eyes can reveal health issues you were not even aware you had. “Systemic diseases are diseases that involve many organs or the whole body. Many of these diseases also affect the eyes. In fact, an eye exam sometimes leads to the first diagnosis of a systemic disease.” According to the University of Illinois’ College of Medicine, some common system diseases that affect the eyes are Diabetes, Hypertension (or High Blood Pressure), AIDS, Graves’ Disease, Sarcoidosis, Lupus, Rheumatoid Arthritis, Atherosclerosis, Sickle Cell Disease and Multiple Sclerosis. However, the eyes may reveal other possible systemic illnesses such as different types of cancer.
The National Institute of Health (NIH) says that, “Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland.” The NIH lists the presence of “congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina)” as one of the possible manifestations of Gardner Syndrome. Congenital hypertrophy of the retinal pigment epithelium, often abbreviated as CHRPE, is one of the things your doctor screens for during your dilated eye exam. Although they don’t affect your vision, multiple lesions of CHRPE in both eyes are “strongly associated with familial adenomatous polyposis coli.”
Although most forms of CHRPE are benign, it is important to be sure by scheduling a visit gastroenterologist to rule it out. Sometimes genetic testing will be performed, or a colonoscopy may be recommended. It is up to your eye doctor to evaluate the lesions based on the number of them, if they are present in one or both eyes, their shape and the regularity of the lesions’ borders. CHRPE associated with Gardner syndrome are usually present in both eyes, in multiple quadrants (or parts of the retina), they have a distinct, pisiform or peapod-like shape and have irregular borders.
Scheduling annual eye exams is one of the ways you can be proactive with your health.