Abstract
PurposeTo evaluate the use of 2 mg intravitreal aflibercept for treatment of choroidal neovascularization (CNV) secondary to angioid streaks in patients with pseudoxanthoma elasticum (PXE).MethodsIn this 12-month prospective, open-label, uncontrolled, non-randomized interventional clinical trial, 15 PXE patients with CNV (mean age: 53 years, range 22–65) received one initial intravitreal injection of 2 mg aflibercept. Further injections were based on CNV activity at monthly examinations. The primary endpoint was change of best corrected visual acuity (BCVA) after 12 months. Secondary outcomes were change of central retinal thickness (CRT), leakage from CNV, retinal sensitivity, and vision-related quality of life.ResultsBCVA improved from 75.0 ± 10.8 (± SD, Snellen equivalent 20/32) to 79.3 ± 7.3 ETDRS letters (20/32) at final visit (p = 0.083). CRT decreased from 317 ± 81 to 279 ± 51 μm (p = 0.004). Retinal sensitivity on microperimetry changed from 17.8 ± 4.5 to 18.5 ± 4.3 dB (p = 0.103) and vision-related quality of life from a VQF-25 score of 80.7 ± 10.4 to 83.5 ± 14.5 (p = 0.554). The mean number of injections was 6.7 ± 2.6, and 5 participants had persistent or reactivated CNV activity at final visit. The observed adverse events were comparable with studies on aflibercept for other indications.ConclusionThe results of this study indicate that intravitreal aflibercept is a treatment option for CNV secondary to PXE.
Highlights
Peter Charbel Issa was previously affiliated with the Department of Ophthalmology, University Hospital of Bonn.Department of Ophthalmology, University Hospital of Bonn, Bonn, GermanyCentre for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, GermanyInstitute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, GermanyStudy Center Bonn, Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, GermanyOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UKPseudoxanthoma elasticum (PXE, OMIM #264800) is a rare multi-system disease with autosomal recessive inheritance
pseudoxanthoma elasticum (PXE) is caused by biallelic mutations in the ABCC6 gene which codes for a transmembrane protein that is mainly expressed in the liver [1]
Secondary outcomes were change compared to baseline of central retinal thickness (CRT), leakage from choroidal neovascularization (CNV), retinal sensitivity, and vision-related quality of life
Summary
Peter Charbel Issa was previously affiliated with the Department of Ophthalmology, University Hospital of Bonn. Pseudoxanthoma elasticum (PXE, OMIM #264800) is a rare multi-system disease with autosomal recessive inheritance. PXE is caused by biallelic mutations in the ABCC6 gene which codes for a transmembrane protein that is mainly expressed in the liver [1]. Lack or reduced function of ABCC6 leads to increased calcification of tissue rich in elastic fibers, explaining the major manifestations of the disease, i.e., whitish-yellowish skin changes, early-onset arteriosclerosis, and characteristic ocular changes driven by calcification of Bruch’s membrane [2]. The ocular phenotype is characterized by so-called peau d’orange which marks the transition zone between the centrally calcified and peripheral uncalcified Bruch’s membrane, peripheral chorioretinal atrophic spots (comet lesions), and angioid streaks which represent breaks
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