International Journal of Clinical Science and Medical Research

Purpose: To describe three cases of angioid streaks revealing pseudoxanthoma elasticum (PXE) and to discuss the diagnostic, clinical, and therapeutic aspects of this uncommon association.

Methods: Observational study of three patients managed at the Ophthalmology Departments of the Specialty Hospital of Rabat and Hassan II Military Hospital of Laâyoune.

Results: Three patients (two men and one woman, aged 58, 55, and 42 years) presented with progressive bilateral visual loss. Fundus examination revealed dark, radially oriented lines emerging from the optic disc, consistent with angioid streaks. Fluorescein angiography confirmed the diagnosis. Dermatologic evaluation revealed pseudoxanthoma elasticum, while cardiovascular and skeletal investigations were unremarkable.

Conclusion: Angioid streaks represent a rare manifestation of Bruch’s membrane rupture, most frequently associated with PXE (Grönblad–Strandberg syndrome). Early detection of choroidal neovascularization and prompt anti-VEGF therapy are essential to preserve visual function.

Angioid streaks; Pseudoxanthoma elasticum; Grönblad–Strandberg syndrome; Choroidal neovascularization; Anti-VEGF.

1. Georgalas I, Papaconstantinou D, Koutsandrea C, et al. Angioid streaks: a comprehensive review. Graefes Arch Clin Exp Ophthalmol. 2019;257(7):1385–1399.
2. Chassaing N, Martin L, Calvas P, Legrand A. Pseudoxanthoma elasticum: clinical features, molecular genetics and management. J Med Genet. 2020;57(5):301–310.
3. Le Saux O, Urban Z. Pseudoxanthoma elasticum: pathogenesis and therapeutic perspectives. Ann Dermatol Venereol. 2022;149(1):45–54.
4. Gliem M, Finger RP, Fimmers R, et al. Treatment of choroidal neovascularization due to angioid streaks in PXE patients. Br J Ophthalmol. 2017;101(1):88–93.
5. Campens L, et al. Cardiovascular findings in pseudoxanthoma elasticum patients and carriers. Atherosclerosis. 2021;330:13–20.
6. Hassenstein A, Holz FG. Fluorescein angiography in angioid streaks. Retina. 2021;41(5):1048–1057.
7. Bergen AA, Plomp AS, et al. Mutations in ABCC6 and the spectrum of PXE. Hum Mutat. 2020;41(8):1280–1291.
8. Finger RP, Charbel Issa P, et al. Spectral-domain OCT features of angioid streaks. Retina. 2016;36(4):673–682.
9. Neldner KH. PXE revisited: genetic, clinical, and histopathologic update. Am J Med Genet. 2018;158A(1):68–80.
10. Pfendner EG, et al. Clinical manifestations of PXE: current understanding and management. Orphanet J Rare Dis. 2021;16(1):180.
11. Germain DP. Pseudoxanthoma elasticum: pathophysiology and new therapeutic approaches. J Invest Dermatol. 2020;140(8):1468–1476.
12. Gliem M, et al. Imaging characteristics and natural history of angioid streaks. Retina. 2019;39(11):2170–2180.
13. Balaratnasingam C, et al. OCT-angiography features of PXE-associated neovascularization. Ophthalmology. 2021;128(6):875–884.
14. Smith RJ, et al. Frequency and risk factors for CNV in PXE. Retina. 2020;40(8):1520–1528.
15. Finger RP, et al. Long-term anti-VEGF outcomes in PXE patients with CNV. Ophthalmology. 2022;129(3):259–268.
16. Querques G, et al. Subretinal hemorrhage in angioid streaks: natural course and treatment outcomes. Am J Ophthalmol. 2020;213:45–52.
17. Gliem M, et al. Anti-VEGF therapy in PXE-related CNV: real-life results. Retina. 2018;38(7):1399–1408.
18. Rishi P, et al. Efficacy of intravitreal aflibercept for PXE-related CNV. Br J Ophthalmol. 2021;105(9):1264–1270.
19. Lee SY, et al. Predictors of visual stabilization after anti-VEGF in angioid streaks. Eye. 2023;37(4):678–686.
20. Schmidt-Erfurth U, et al. Laser photocoagulation in extrafoveal CNV due to angioid streaks. Ophthalmologica. 2019;242(4):213–219.
21. Sadler TW, et al. Paget’s disease and angioid streaks: diagnostic pitfalls. Clin Exp Ophthalmol. 2018;46(2):154–159.
22. Cavelier M, et al. Genetic heterogeneity in PXE and systemic implications. Hum Genet. 2023;142(2):321–334.