OSLI Retina

August 2019

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514 Ophthalmic Surgery, Lasers & Imaging Retina | Healio.com/OSLIRetina ■ C A S E R E P O R T ■ Multimodal Retinal Imaging Findings in Williams-Beuren Syndrome Hatice Bilge Araz Erşan, MD, FEBO; Dilek Güven, MD; Atilla Gökçe Demir, MD; Ayşe Burcu Dirim, MD, FEBO; Hakan Kaçar, MD; Doğukan Arslan, MD ABSTRACT: A 17-year-old male patient diagnosed with Williams-Beuren syndrome presented with a gradual decline in vision in both eyes during a 3-year period. The ophthalmologic examination was notable for numerous loop-shaped tortuous vessels accompanying normal appearing retinal vessels and cystoid macular edema (CME). Mild fo- veal hypoplasia with a persistence of inner retinal layers was noted on spectral-domain optical coher- ence tomography (OCT). OCT angiography showed that the abnormal vessels were not retinal vessels but were compatible with prepapillary vascular loops. The CME persisted despite repeated intra- vitreal bevacizumab treatment. The resolution was observed following an intravitreal triamcinolone acetonide injection. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:514-518.] INTRODUCTION Williams-Beuren syndrome (WBS) is a rare, mul- tisystem disorder caused by de novo deletion of ap- proximately 28 contiguous genes on chromosome 7q11.23. The classic clinical phenotype is charac- terized by cardiovascular disorders, facial dysmor- phisms, mental retardation, skeletal and renal ab- normalities, and a peculiar cognitive profile. The symptoms and physical features vary greatly in range and severity, even among familial cases, depending on the extent of the deletion. 1 Various ophthalmic manifestations have been re- ported including the characteristic stellate pattern on iris, strabismus, hypermetropia, and tortuosity of reti- nal vessels. 2 Herein, we described novel multimodal retinal imaging findings of foveal hypoplasia and bi- lateral prepapillary venous loops (PVL) in a patient with WBS. Furthermore, we reported the results of intravitreal bevacizumab (IVB) (Avastin; Genentech, South San Francisco, CA) and triamcinolone ace- tonide (IVTA) injection for the treatment of macular edema in this patient. CASE REPORT A 17-year-old male patient with a genetic di- agnosis of WBS presented to the ophthalmology clinic with decreased vision in both eyes (OU) for 3 years. He had a history of operation for supraval- vular aortic stenosis and inguinal hernia. There was parental consanguinity with no affected siblings or family member. He was under control with respect to cardiovascular function. All inflammatory mark- ers were negative. Ophthalmologic examination re- vealed a best-corrected visual acuity (BCVA) of 0.5 OU (right eye [OD]: -0.25 -0.50 × 50; left eye [OS]: -0.75-0.50 × 38). Anterior segment examination was significant for a stellate pattern of a green iris. Fun- duscopic examination showed bilateral obliteration of optic disc cupping, Bergmeister's papilla, and nu- merous loop- shaped tortuous vessels accompanying normal appearing retinal vessels on the macula and around the optic disc (Figures 1A and 1B). Fundus autofluorescence imaging revealed a perimacular hyperautofluorescent ring and hyperautofluorescent dots (Figures 1C and 1D). Fundus fluorescein angi- ography showed filling of the loops at venous phase, a filling defect in some loops, and diffuse leakage at the macula. There was no leakage from retinal ves- sels, peripheral retinal vascular changes, or avascu- From the Department of Ophthalmology, University of Health Sciences Istanbul Sisli Hamidiye Etfal Application and Research Center, Istanbul, Turkey. Originally submitted July 18, 2018. Revision received October 14, 2018. Accepted for publication January 17, 2019. Presented at the Istanbul Retina 2016 Meeting, April 15-16, 2016, in Istanbul, Turkey. The authors report no relevant financial disclosures. Address correspondence to Hatice Bilge Araz Erşan, MD, FEBO, Depart- ment of Ophthalmology, University of Health Sciences Istanbul Sisli Hamidiye Etfal Application and Research Center, 34371 Şişli, Istanbul, Turkey; email: hbilgearaz@gmail.com. doi: 10.3928/23258160-20190806-07

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