Retinal Pigment Deposits: Potential Links to Cancer and Diagnosis

Q: Retinal Pigment Deposits: Potential Links to Cancer and Diagnosis

ELMER： There is a hereditary form of colorectal cancer known as Familial Adenomatous Polyposis (FAP). <br>Within FAP families, there is a subtype called Gardner's syndrome. <br>Patients with Gardner's syndrome develop multiple thickened lesions in the retinal pigment epithelium.

Retinal pigment deposition

I have been diagnosed with retinal pigment deposits in my right eye by an ophthalmologist, who informed me that this could be a precursor to colon cancer.
However, my blood tests conducted by a gastroenterologist came back normal.
Is there a possibility that these deposits could be benign or related to other conditions? I would appreciate your guidance on how to proceed with further consultations.

ELMER, 60~69 year old female. Ask Date: 2006/07/25

Dr. Fan Sheng reply Oncology

ELMER: There is a hereditary form of colorectal cancer known as Familial Adenomatous Polyposis (FAP).
Within FAP families, there is a subtype called Gardner's syndrome.
Patients with Gardner's syndrome develop multiple thickened lesions in the retinal pigment epithelium.
Therefore, children born into Gardner's syndrome families should undergo retinal examinations, which can help identify members who have inherited the pathogenic gene.
Conversely, some individuals may have congenital retinal pigment epithelium thickening, but the likelihood of them having Gardner's syndrome is quite low.
Based on my assessment, you may have retinal pigment epithelium thickening, but you are not likely a patient with Gardner's syndrome.
This is because Gardner's syndrome is familial, and there probably aren't many people in your family who have had colorectal cancer, right? Furthermore, most patients with Gardner's syndrome develop colorectal cancer before the age of 40, and considering your age, this possibility can also be ruled out.
However, please note that although we have clarified all of this, and blood tests show normal colorectal cancer tumor markers, it cannot absolutely guarantee that you will not develop colorectal cancer.
Given your age, it is advisable to undergo a colonoscopy every one to two years to remove any incidental polyps, as this is the safest approach.

Reply Date: 2006/07/25

More Info

Retinal pigment deposits, particularly in the context of your diagnosis of retinal melanosis, can indeed raise concerns about underlying systemic conditions, including malignancies. However, it is essential to understand that while there may be associations between certain retinal findings and systemic diseases, not all retinal pigment deposits indicate a serious underlying condition such as cancer.

Understanding Retinal Pigment Deposits
Retinal pigment deposits can manifest in various forms, including retinal pigment epithelium (RPE) changes, which may appear as dark spots or areas of hyperpigmentation on the retina. These changes can be benign or indicative of more serious conditions. The presence of these deposits can be due to several factors, including:
1. Genetic Factors: Certain inherited retinal diseases can lead to pigmentary changes in the retina. Conditions such as retinitis pigmentosa are characterized by progressive vision loss and pigmentary changes.

2. Age-Related Changes: As individuals age, the retina can undergo degenerative changes, leading to the accumulation of pigment.

3. Inflammation or Injury: Previous retinal injuries or inflammatory conditions can also lead to pigment deposition.

4. Systemic Associations: In some cases, retinal pigment deposits may be associated with systemic diseases, including certain cancers. However, this is not the most common scenario.

Potential Links to Cancer
While there have been discussions in the medical literature regarding the association of retinal findings with systemic malignancies, such as colon cancer, it is crucial to approach this with caution. The presence of retinal pigment deposits alone is not sufficient to diagnose cancer. In your case, the normal gastrointestinal blood tests are reassuring and suggest that there may not be an underlying malignancy.

Diagnostic Approach
Given your concerns and the diagnosis of retinal pigment deposits, here are some steps you can take:
1. Follow-Up with an Ophthalmologist: It is essential to have regular follow-ups with your eye care specialist. They can monitor the condition of your retina and assess any changes over time.

2. Comprehensive Eye Examination: A thorough examination, including optical coherence tomography (OCT) and possibly fluorescein angiography, can provide more information about the nature of the pigment deposits and the overall health of your retina.

3. Consult with a Specialist: If there are ongoing concerns about the potential link to systemic conditions, consider consulting with a retinal specialist or an oncologist who can provide insights based on the latest research and clinical guidelines.

4. Consider Genetic Counseling: If there is a family history of retinal diseases or systemic conditions, genetic counseling may be beneficial to understand your risk factors better.

5. Maintain a Healthy Lifestyle: Regardless of the findings, maintaining a healthy lifestyle, including a balanced diet, regular exercise, and avoiding smoking, can help reduce the risk of various health issues, including cancer.

Conclusion
In summary, while retinal pigment deposits can be concerning, they do not automatically indicate a malignancy, especially in the absence of other symptoms or abnormal test results. Regular monitoring and a comprehensive approach to your eye health, along with consultations with appropriate specialists, will provide the best strategy for managing your condition. Always communicate openly with your healthcare providers about your concerns and any new symptoms that may arise.

Similar Q&A

Understanding the Differences Between Pigmentary Retinopathy and Retinal Pigment Deposits

Is there a difference between pigmentary retinopathy and retinal pigment epithelium (RPE) deposits? How do they occur?

Dr. Hu Yusheng reply Ophthalmology
Dear Mr. Hedgehog, Dr. Hu is on vacation abroad, and I will respond on his behalf. The former refers to pigmentary retinal degeneration, which is a progressive degeneration that leads to a decline in vision. The latter is simply pigmentary accumulation, which is more localized; i...

Understanding Retinal Degeneration: Causes, Treatments, and Prevention Tips

Hello Doctor: I am highly myopic and have been feeling something unusual in my left eye for a while. The colors I see with my left eye seem slightly duller than those with my right eye. When I look at white objects, they appear to have a faint yellowish film in my left eye. I am ...

Dr. He Jianxian reply Ophthalmology
1. Many people actually experience degeneration of the retinal pigment epithelium, especially in the elderly, and the causes are often unknown. 2. The retinal pigment epithelium is located outside the neural cell layer of the retina, but its degeneration can indeed affect the neu...

Understanding Retinal Issues: High Myopia and Pigment Deposits Explained

1. Is retinal pigment deposition congenital? 2. If there is pigment deposition in the retina but no night blindness or other discomfort, does this indicate that the eyes are healthy? 3. With retinal pigment deposition but no night blindness, will there be differences compared...

Dr. Gao Pilin reply Ophthalmology
Hello, Ms. Wang: 1. It can sometimes be spontaneous. 2. Retinitis pigmentosa is one of the characteristics of night blindness, but individuals with retinitis pigmentosa may not always experience night blindness. 3. It is possible that there is a pre-existing difference in vision ...

Understanding Retinal Issues: Common Symptoms and Concerns Explained

Dear Dr. Hu, Hello, I am Mr. Hsiao, who previously inquired about retinal-related issues. Thank you for your earlier response. I have a few more questions that I would like your professional insight on: 1. Recently, when I look at sunlight or fluorescent lights reflecting off a...

Dr. Hu Yusheng reply Ophthalmology
Hello Mr. Hsiao: Question 1: The answer is that it may be caused by astigmatism induced by tears. Question 2: The answer is that it could be due to visual persistence. Question 3: There are many types of retinal diseases, and each individual's condition varies. Further...