August 8, 2020
San Diego County Optometric Society Newsletter: Retina Corner
By Nikolas J.S. London, MD FACS
President and Director of Clinical Research, Retina Consultants San Diego
Chief of Ophthalmology, Scripps Memorial Hospital La Jolla
Dear SDCOS membership,
August is upon us, the dog days of summer. I hope that everyone is doing as well as they can be, and staying sane. If anyone feels like their life is surreal right now, you are definitely not alone, but we will certainly all get through this together. Also, there are always silver linings. One of those for me is that I set up an extremely easy to use system for collecting and storing multimodal digital retinal imaging of interesting cases in the cloud. It has been an amazing process, and every single day I try to save at least one case that is a great example of a pathology, or is educational in some way. Most of these cases come from you guys, and I’d like to thank you for helping me to collect a really cool library. This month I would like to share a case that was sent in by Dr. Joseph Ambrose. A really thought-provoking case of congenital hypertrophy of the retinal pigment epithelium (CHRPE).
The patient was a 24 year-old, healthy young woman with a history of mild myopia and stable pigmented lesions involving the right fundus (figure 1). Dr. Ambrose sent her over to make sure they were benign, as he suspected. As you can see in the color fundus photograph, there are multifocal pigmented lesions in inferotemporal quadrant of the right fundus, varying in size from about 100 microns to about a disc diameter. Some of these have a “bear track” appearance. The OCT (figure 2) showed that the lesions are flat with overlying retinal thinning, and no choroidal thickening or subretinal fluid. I agreed with Dr. Ambose - these look very much like CHRPE, and it was reassuring to see no evidence of choroidal melanoma or other concerning diagnosis. As I examined the patient and evaluated her imaging, I asked her my routine questions when evaluating these types of lesions. In general, CHRPE lesions are very benign with about a 1% risk of adenocarcinoma development. One of the only things I consider is that some CHRPE-like lesions are associated with the condition Familial Adenosis Polyposis (FAP), which predisposes patients to colon cancer at a very young age. FAP is also associated with desmoid tumors, non-malignant connective tissue tumors of the abdomen, as well as dental and jaw abnormalities. So, it caught my attention when the patient admitted to having a fairly strong history of colon cancer. It is moments like this where you need to take a step back and carefully consider what you are looking at and how to best direct the care of this patient. Could these be the lesions of FAP? Was this healthy young woman at risk of colon cancer??
Due to her family history, I felt obligated to recommend seeing her PCP for evaluation and consideration of genetic testing and/or a colonoscopy, however fortunately for this patient I do not think she is at high risk. The CHRPE-like lesions seen in FAP do look somewhat like her photograph, there is good reason to be reassured. Unlike her single quadrant of lesions in a single eye, FAP-associated fundus lesions are commonly bilateral and haphazardly-distributed in multiple quadrants. Moreover, they typically have a pisciform (fish-like) shape with a partial halo of depigmentation at one edge of the lesion. Her lesions appear to be garden-variety grouped CHRPE. I certainly hope that I am right.
Thanks to Dr. Ambrose for sharing this very interesting case with us!
Thanks again for reading. Please don’t ever hesitate to contact me with questions about this or any other case. I am at your guys’ disposal and love to help when I can.
Best wishes, and until next time,