Patient Presentation: A 57-year-old male was referred to ophthalmology for blurry vision in his right eye over the past 3 days. The patient’s past medical and ocular history were unremarkable. On external examination, you noticed yellow papules which appear like cobblestones on the patients neck and arms. The patient has not seen a physician about these lesions. On assessment, his best-corrected visual acuity was 20/30-2 OD and 20/25-2 OS. Refraction was -0.75 sph OU. Fundus exam showed angioid streaks emanating from the optic disc OU and a small area of hemorrhage in the macula. The fundus drawings from the clinic visit are shown below:
OCT macula was performed and shown:
Question: What abnormalities are seen on the patient’s OCT image in the right eye?
Question: Given the clinical examination and imaging findings, what is the most likely cause for this pathologic process?
Question: What is the most likely systematic diagnosis in this patient?
Question: What is the best first-line treatment for this patient?
Our patient was treated with three injections of aflibercept in the right eye in monthly intervals. His vision improved to 20/25 and his OCT scan (shown below) demonstrated resolution of the CNVM with preservation of the outer retinal layers.
Charbel Issa P, Finger RP, Holz FG, Scholl HP. Multimodal imaging including spectral domain OCT and confocal near infrared reflectance for characterization of outer retinal pathology in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5913-8.
Gal-Or, O., Balaratnasingam, C. & Freund, K.B. Optical coherence tomography angiography findings of choroidal neovascularization in pseudoxanthoma elasticum.Int J Retin Vitr 1, 11 (2015). https://doi.org/10.1186/s40942-015-0011-x
Germain DP. Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017;12(1):85. Published 2017 May 10. doi:10.1186/s13023-017-0639-8
Georgalas I, Papaconstantinou D, Koutsandrea C, et al. Angioid streaks, clinical course, complications, and current therapeutic management. Ther Clin Risk Manag. 2009;5(1):81-89.
Kwok JM, VandenHoven C, Muni RH. Retinal crystalline lesions in pseudoxanthoma elasticum. Canadian Journal of Ophthalmology. 2021 May 6.
1. To identify ocular complications associated with angioid streaks