OSLI Retina

August 2020

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August 2020 · Vol. 51, No. 8 467 ■ C A S E R E P O R T ■ Complex Combined Tractional and Rhegmatogenous Retinal Detachment in a Twenty- Three-Year-Old Male With Wagner Syndrome Dhariana Acón, MD; Rehan M. Hussain, MD; Nicolas A. Yannuzzi, MD; Audina M. Berrocal, MD ABSTRACT: Wagner syndrome is a rare hereditary vitreoretinopathy that has been reported in only about 300 people worldwide. It is caused by a mu- tation in the VCAN gene that encodes for the pro- teoglycan versican, which is a major component of the extracellular matrix of the vitreous gel; retinal detachment is uncommon in these cases. The au- thors report a case of a 23-year-old male who pre- sented with bilateral combined tractional and rheg- matogenous retinal detachments. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:467-471.] INTRODUCTION Wagner syndrome (WS) is a rare vitreoretinopa- thy with no other systemic manifestations that was first described in 1938 in 13 members of a Swiss family. 1 To date, only 13 families with WS have been characterized at a molecular level worldwide. 2 Estimated prevalence is less than 1:1,000,000, 4 and the pattern of inheritance is known to be autosomal dominant (AD) with near complete penetrance. 4 At least nine different AD inherited mutations in the VCAN gene have been reported to date in families with WS. 1 In 1995, Brown et al. were the first to show the condition could be mapped to chromosome 5q13– 14.6 In 2005, Miyamoto et al. associated the pa- thology to the extracellular matrix component gene versican (VCAN), alternatively called CSPG2 (chon- droitin sulfate proteoglycan 2 gene). Clinically, WS is characterized by an optically empty vitreous cavity with avascular vitreous veils and strands at the equatorial vitreoretinal interface. Patients may also present with mild myopia, pre- senile cataracts, progressive chorioretinal atrophy, retinal pigment epithelium (RPE) clumping, ectopic foveae, inverted optic disc, uveitis, glaucoma, and nyctalopia. 1,2 The course of the disease is progres- sive, and the chorioretinal pathology causes gradual visual loss, usually in the absence of retinal detach- ment (RD). However, some reports suggest that ap- proximately 55% of WS cases can have tractional RDs by the age of 45 years, and electrophysiologic abnormalities are found in 87% of the cases. 4,5 Due to the variation of clinical presentation, expressiv- ity and severity among patients, WS is often over- looked or misdiagnosed. CASE REPORT A 23-year-old male from Ukraine was evaluated for flashes, floaters, and progressive visual loss in the left eye. He was otherwise healthy and had a history of RD repair in the right eye (OD) 4 months From the Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida. Originally submitted December 4, 2019. Revision received April 29, 2020. Accepted for publication May 27, 2020. Dr. Hussain is a consultant for Alimera Sciences. The remaining authors report no relevant financial disclosures. Address correspondence to Audina M. Berrocal, MD, Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Avenue, Suite 262, Miami, FL 33136; email: audiberr@gmail.com. doi: 10.3928/23258160-20200804-07

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