METHODS: In a retrospective observational study, ophthalmic outcomes were compared between two groups of age-matched patients with genetically and pathologically confirmed PXE: one group with FP versus one without FP. All included patients underwent thorough clinical examination. Further investigation (optical coherence tomography (OCT), Cirrhus, Zeiss Germany, and/or fluorescein/indocyanin green angiography) was performed in cases of suspected choroidal neovascularization (CNV).
RESULTS: The study included 13 PXE patients with FP (group 1: 8 men and 5 women, aged 45-65 years) and 47 age-matched PXE patients without FP (group 2: 19 men and 28 women). Mean patient follow-up was 63 months (range 0-132 months). Subretinal fibrosis (SRF) was more frequently associated with FP (9/26 eyes, 34.6%), compared to absence of FP (4/94, 4.2%) (p = 0.0001). Independently of SRF, FP can evolve into deep macular atrophy and/or CNV with dramatic consequences for central vision.
CONCLUSIONS: Fundus pulverulentus may occur in PXE and is most commonly associated with subretinal fibrosis in the posterior pole and visual loss by macular atrophy even in the absence of CNV.