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Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

  • Retinal Disorders
  • Published:
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Abstract

Background

Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients.

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.

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Author information

Authors and Affiliations

  1. Ophthalmology Department, CHU Angers, Angers, France

    J. M. Ebran, D. Milea & S. Leruez

  2. PXE Referral Center, Angers University Hospital, Angers, France

    J. M. Ebran, L. Martin,  Leftheriotis, N. Navasiolava & S. Leruez

  3. Dermatology Department, CHU Angers, Angers, France

    L. Martin

  4. Mitovasc, Institute CNRS 6015, INSERM U 1083, University of Angers, Angers, France

    L. Martin, M. Ferre & S. Leruez

  5. Vascular Investigation Laboratory, Nice University Hospital, Nice, France

    Leftheriotis

  6. Singapore National Eye Center, Singapore Eye Research Hospital and Duke-NUS, Singapore, Singapore

    D. Milea

Authors
  1. J. M. Ebran
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  2. L. Martin
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  4. N. Navasiolava
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  5. M. Ferre
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  6. D. Milea
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  7. S. Leruez
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Correspondence to J. M. Ebran.

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The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Ebran, J.M., Martin, L., Leftheriotis et al. Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum. Graefes Arch Clin Exp Ophthalmol 256, 699–707 (2018). https://doi.org/10.1007/s00417-018-3937-5

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  • DOI: https://doi.org/10.1007/s00417-018-3937-5

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