OSLI Retina

June 2020

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354 Ophthalmic Surgery, Lasers & Imaging Retina | Healio.com/OSLIRetina ■ C A S E R E P O R T ■ A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy Chang Sup Lee, MD; Monique Leys, MD ABSTRACT: The authors describe a family of three related individuals with a previously unreported mutation in the PRPH2 gene (C213W), which is as- sociated with pattern dystrophy simulating fundus flavimaculatus. Four eyes later developed exuda- tive maculopathy with choroidal neovasculariza- tion, which required injections of intravitreal anti- vascular endothelial growth factor (VEGF). This study reports the effectiveness of anti-VEGF thera- py and long-term follow-up data in a family with a C213W mutation in the PRPH2 gene. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:354-362.] INTRODUCTION Previous studies have described peripherin 2 (PRPH2) mutations as causes of vision-threatening diseases such as pattern dystrophy (PD), central are- olar choroidal dystrophy, retinitis pigmentosa (RP), and other forms of macular degeneration (MD). 1-11 PRPH2, or retinal degeneration slow (RDS), is a transmembrane glycoprotein that is crucial for the formation and stabilization of the photoreceptor outer segments. 3,12 It stabilizes the outer segment discs by acting as an adhesive element. 5 Here we present a family of three affected individuals with a novel C213W (c.639C>G) missense mutation in the PRPH2 gene, which resulted in PD simulating fun- dus flavimaculatus. We are reporting our findings, including long-term follow-up of four eyes with exudative maculopathy. CASE REPORT Patient A Patient A, the proband, a 71-year-old Caucasian woman, initially presented with metamorphopsia in the right eye in November 2005 when she was 58 From West Virginia University Eye Institute, Morgantown, West Virginia. © 2020 Lee, Leys; licensee SLACK Incorporated. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCom- mercial 4.0 International (https://creativecommons.org/licenses/by-nc/4.0). This license allows users to copy and distribute, to remix, transform, and build upon the article non-commercially, provided the author is attributed and the new work is non-commercial. Originally submitted February 18, 2020. Revision received April 22, 2020. Accepted for publication May 4, 2020. Presented as an abstract poster at the Annual Meeting of The Association for Research in Vision and Ophthalmology Meeting, in Seattle, Washington, May 1-5, 2016. Support for genetic testing provided by EyeGENE and Spark Therapeutics. The authors report no relevant financial disclosures. Address correspondence to Chang Sup Lee, MD, West Virginia Eye Institute, 1 Medical Center Drive, Morgantown, WV, 26505; email: changsupleemd@ gmail.com. doi: 10.3928/23258160-20200603-06

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