Purpose: To describe a case of retinal arterial macroaneurysm (RAM) in a patient with hereditary nonpolyposis colon cancer (HNPCC)/Lynch syndrome. Methods: A case and its findings were analyzed. Results: A 68-year-old woman presented with a recent history of decreased near vision in the left eye. Both eyes had a visual acuity of 20/20 with normal intraocular pressure. The right retina was normal. The left retina had a focal dilation of the retinal arteriole with a surrounding hemorrhage and lipid in the inferonasal quadrant. The patient was diagnosed with RAM and was subsequently treated with focal laser photocoagulation. The patient had a medical history of stage 1 colon cancer associated with HNPCC/Lynch syndrome. Conclusions: Increased vascular network complexity has been reported in HNPCC/Lynch syndrome. This is the first report of a RAM in a patient with this genetic profile. Given the atypical presentation, there may be an association between HNPCC/Lynch syndrome and RAMs.
PantonRWGoldbergMFFarberMD. Retinal arterial macroaneurysms: risk factors and natural history. Br J Ophthalmol. 1990;74(10):595-600. doi:10.1136/bjo.74.10.595
4.
MoosaviRAFongKCSChopdarA. Retinal artery macroaneurysms: clinical and fluorescein angiographic features in 34 patients. Eye (Lond). 2006;20(9):1011-1020. doi:10.1038/sj.eye.6702068
5.
BhargavaMIkramMKWongTY. How does hypertension affect your eyes?J Hum Hypertens. 2012;26(2):71-83. doi:10.1038/jhh.2011.37
6.
Abdel-KhalekMNRichardsonJ. Retinal macroaneurysm: natural history and guidelines for treatment. Br J Ophthalmol. 1986;70(1):2-11. doi:10.1136/bjo.70.1.2
7.
SehgalRSheahanKO’ConnellPRHanlyAMMartinSTWinterDC. Lynch syndrome: an updated review. Genes (Basel). 2014;5(3):497-507. doi:10.3390/genes5030497
8.
De FeliceCLatiniGBianciardiG, et al. Abnormal vascular network complexity: a new phenotypic marker in hereditary non-polyposis colorectal cancer syndrome. Gut. 2003;52(12):1764-1767. doi:10.1136/gut.52.12.1764
9.
EdelsteinDLGiardielloFMBasiriA, et al. A new phenotypic manifestation of familial adenomatous polyposis. Fam Cancer. 2011;10(2):309-313. doi:10.1007/s10689-011-9432-3
10.
HansenTFJensenLHSpindlerKLLindebjergJBrandslundIJakobsenA. The relationship between serum vascular endothelial growth factor A and microsatellite instability in colorectal cancer. Colorectal Dis. 2011;13(9):984-988. doi:10.1111/j.1463-1318.2010.02357.x
11.
OttoWMacraeFSierdzinskiJ, et al. Microsatellite instability and manifestations of angiogenesis in stage IV of sporadic colorectal carcinoma. Medicine (Baltimore). 2019;98(1):e13956. doi:10.1097/md.0000000000013956
12.
ChenHZhaoXYMengLHZhangWFChenYX. Clinical characteristics of retinal arterial macroaneurysms and prognosis of different interventions. Graefes Arch Clin Exp Ophthalmol. 2022;260(2):439-450. doi:10.1007/s00417-021-05364-0
