An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report

BMC Research Notes

Andrew R Webster³  Efstratios Parikakis²  Dimitrios Karagiannis²  Vasileios Soumplis¹  Michael Karampelas¹ 

[1] Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK;Ophthalmiatrion Eye Hospital, NHS, Athens, Greece;Institute of Ophthalmology, University College London, London, UK

关键词: Pseudoxanthoma elasticum;    Choroidal neovascularization;    Bevacizumab;   

Others  :  1140497
DOI  :  10.1186/1756-0500-6-530

 received in 2013-08-23, accepted in 2013-12-09,  发布年份 2013

【 摘 要 】

Background

Pseudoxanthoma elasticum is an inherited disorder that is associated with accumulation of pathologic elastic fibers in the skin, vascular walls and Bruch’s membrane in the eye. Choroidal neovascularization is one of the most common causes of acute vision loss in these patients. We report an atypical case of suspected choroidal neovascularization associated with pseudoxanthoma elasticum.

Case presentation

A 47-year-old Caucasian woman with pseudoxanthoma elasticum and angioid streaks was referred because of decreased and distorted vision in her right eye of one week’s duration. Visual acuity was 6/12 in the right eye and 6/6 in the left eye. Fundus examination revealed angioid streaks and white intraretinal macular deposits bilaterally. Fluorescein angiography did not reveal any obvious leakage in the right eye while optical coherence tomography revealed subretinal fluid associated with an adjacent intraretinal hyperreflective structure. Autofluoresence imaging showed focal areas of increased autofluorescence corresponding to the deposits in both eyes. Over the following year the patient underwent five intravitreal injections of bevacizumab (Genentech/Roche,US) in the right eye, which resulted in visual acuity improving to 6/9 with regression of the hyperreflective structrure and complete resolution of subretinal fluid.

Conclusions

Traditionally, fluorescein angiography is effective in the detection of choroidal neovascularization in patients with pseudoxanthoma elasticum. In our case, optical coherence tomography revealed subretinal fluid and an adjacent hyperreflective structure while fluorescein angiography did not reveal any obvious leakage. The sole presence of subretinal fluid does not necessarily imply the presence of choroidal neovascularization and certainly retinal pigment epithelium dysfunction could also explain subretinal fluid in these patients. However, the complete absorption of the fluid and the disappearance of the previously evident hyperreflective structure following treatment, led us to suspect choroidal neovascularization as the primary cause of the above findings. The poor natural course of choroidal neovascularization in these patients increases the importance of early detection and should result in the adaptation of a low-threshold strategy concerning the initiation of treatment.

【 授权许可】

   
2013 Karampelas et al.; licensee BioMed Central Ltd.

【 图 表 】

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【 参考文献 】

• [1]Finger RP, Charbel Issa P , Ladewig MS , Götting C C, Szliska C, Scholl HP, Holz FG: Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol 2009, 54:272-285.
• [2]Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG: ABCC6 and pseudoxanthoma elasticum. Pflugers Arch 2007, 453(5):685-691.
• [3]Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA: Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol 2003, 48:424-438.
• [4]Myung JS, Bhatnagar P, Spaide RF, Klancnik JM Jr, Cooney MJ, Yannuzzi LA, Freund KB: Long-term outcomes of intravitreal antivascular endothelial growth factor therapy for the management of choroidal neovascularization in pseudoxanthoma elasticum. Retina 2010, 30(5):748-755.
• [5]Yannuzzi LA: The Retinal Atlas. Philadelphia,US: Saunders/Elsevier; 2010.
• [6]Zweifel SA, Imamura Y, Freund KB, Spaide RF: Multimodal fundus imaging of pseudoxanthoma elasticum. Retina 2011, 31(3):482-491.
• [7]Kim M, Lee SC, Lee SJ: Intravitreal ranibizumab for acute central serous chorioretinopathy. Ophthalmologica 2013, 229(3):152-157.
• [8]Quin G, Liew G, Ho IV, Gillies M, Fraser-Bell S: Diagnosis and interventions for central serous chorioretinopathy: review and update. Clin Experiment Ophthalmol 2013, 41(2):187-200.
• [9]Finger RP, Charbel Issa P, Ladewig M, Holz FG, Scholl HP: Intravitreal bevacizumab for choroidal neovascularisation associated with pseudoxanthoma elasticum. Br J Ophthalmol 2008, 92:483-487.
• [10]Finger RP, Charbel Issa P, Hendig D, Scholl HP, Holz FG: Monthly ranibizumab for choroidal neovascularizations secondary to angioid streaks in pseudoxanthoma elasticum: a one-year prospective study. Am J Ophthalmol 2011, 152(4):695-703.
• [11]Finger RP, Charbel Issa P, Schmitz-Valckenberg S, Holz FG, Scholl HN: Long-term effectiveness of intravitreal bevacizumab for choroidal neovascularization secondary to angioid streaks in pseudoxanthoma elasticum. Retina 2011, 31(7):1268-1278.
• [12]Gliem M, Finger RP, Fimmers R, Brinkmann CK, Holz FG, Charbel Issa P: Treatment of choroidal neovascularization due to angioid streaks: a comprehensive review. Retina 2013, 33(7):1300-1314.
• [13]Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I: Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom 2011, 94(2):169-180.
• [14]Ladas ID, Kotsolis AI, Ladas DS, Niskopoulou M, Georgalas I, Papakonstantinou D, Rouvas AA: Intravitreal ranibizumab treatment of macular choroidal neovascularization secondary to angioid streaks: one-year results of a prospective study. Retina 2010, 30(8):1185-1189.
• [15]Connor PJ, Juergens JL, Perry HO, Hollenhorst RW, Eedwards JE: Pseudoxanthoma elasticum and angioid streaks: a review of 106 cases. Am J Med 1961, 30:537-543.