DOI: https://doi.org/10.36347/sjmcr.2026.v14i05.107

Pages: 1316-1322

Pseudoxanthoma elasticum [PXE] is a rare multisystem genetic disorder characterized by progressive calcification of elastic fibers affecting primarily the skin, cardiovascular system, and eyes. Ophthalmologic involvement, mainly represented by angioid streaks and choroidal neovascularization [CNV], is a major cause of visual impairment in young patients. We report the case of a 54-year-old woman with clinically and histologically confirmed pseudoxanthoma elasticum who presented with progressive bilateral visual loss. Fundus examination revealed bilateral angioid streaks associated with a “peau d’orange” appearance and fibrotic macular changes. Multimodal imaging including fluorescein angiography, optical coherence tomography [OCT], and OCT angiography [OCT-A] demonstrated inactive cicatricial choroidal neovascularization complicating angioid streaks. Management consisted of close monitoring and intravitreal anti-VEGF injections administered on a pro re nata [PRN] basis. Ophthalmologic complications of PXE mainly result from calcification and fragility of Bruch’s membrane. Anti-VEGF therapy is currently considered the standard treatment for PXE-associated CNV, allowing anatomical and functional stabilization in most cases. However, long-term evolution remains marked by the risk of neovascular recurrence and progressive macular atrophy. Novel therapeutic approaches targeting calcification pathways and underlying genetic abnormalities are currently under investigation. Ophthalmologic complications of PXE represent an important cause of visual loss. Regular follow-up based on multimodal imaging and early management of choroidal neovascularization are essential to improve visual prognosis. Targeted therapies and gene therapy represent promising future perspectives.