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Case Reports
. 2024 Oct-Dec;68(4):470-475.
doi: 10.22336/rjo.2024.85.

Choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: case report

David-Ionuț Beuran  1 , Camelia Constantin  1 , Răzvan Constantin Șerban  2 , Lucian George Eftimie  3   4 , Cătălin Cornăcel  1
Affiliations
Case Reports

Choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: case report

David-Ionuț Beuran et al. Rom J Ophthalmol. 2024 Oct-Dec.

Abstract

Objective: Present the diagnosis and therapeutic approach in a patient with pseudoxanthoma elasticum and ocular involvement.

Case report: A 46-year-old patient presented for progressive loss of vision and metamorphopsias in the left eye. The ophthalmological examination showed angioid streaks and secondary choroidal neovascularization. The dermatologist performed an incisional biopsy of a skin area in the right axilla that showed white-yellow, discrete streaks. Histopathological examination confirmed the diagnosis of pseudoxanthoma elasticum. It was decided to start intravitreal injections with aflibercept. Three injections were made in the left eye with subsequent visual acuity improvement.

Discussion: Angioid streaks are a rare retinal condition, and pseudoxanthoma elasticum is the most common association. Other systemic conditions are Ehlers-Danlos syndrome, Paget's disease, and hemoglobinopathies. Definite diagnosis requires skin lesions or calcified elastic fibers on pathological examination and angioid streaks of the retina. Choroidal neovascularization is a frequent complication and leads to vision loss. Intravitreal inhibitors of vascular endothelial growth factor are currently the first line of treatment.

Conclusions: Pseudoxanthoma elasticum has numerous systemic manifestations and requires a multidisciplinary team to be monitored and treated.

Keywords: ABC = ATP-binding cassette; AS = Angioid streaks; ATP = adenosine triphosphate; Anti-VEGF = Anti-vascular endothelial growth factors; BE = Both eyes; CNV = Choroidal neovascularization; CRT = Central retinal thickness; FA = Fluorescein angiography; FAF = Fundus autofluorescence; IOP = Intraocular pressure; LE = Left eye; NCT = Non-contact tonometer; PPi = Inorganic plasma pyrophosphate; PXE = Pseudoxanthoma elasticum; RE = Right eye; RPE = Retinal pigment epithelium; SD-OCT = Spectral-domain optical coherence tomography; angioid streaks; choroidal neovascularization; pseudoxanthoma elasticum.

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Conflict of interest statement

The authors state no conflict of interest.

Figures

Fig. 1
Fig. 1
A. Fundus photo of the RE; B. Fundus photo of the LE
Fig. 2
Fig. 2
A. Macula OCT of the RE; B. Macula OCT of the LE
Fig. 3
Fig. 3
A-D. Hematoxylin and eosin stained sections of the biopsy. Elastic fibers are short and fragmented, with abnormal basophilic fibers (arrow)
Fig. 4
Fig. 4
A. Macula OCT of the RE 3 months after the first examination; B. Macula OCT of the LE after three intravitreal injections with aflibercept
See this image and copyright information in PMC

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