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Open AccessCase Report
Genes 2017, 8(7), 187;

Outcome of Full-Thickness Macular Hole Surgery in Choroideremia

Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
Nuffield Laboratory of Ophthalmology, University of Oxford and Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK
Department of Ophthalmology, Academic Medical Center, 1000 AE Amsterdam, The Netherlands
Author to whom correspondence should be addressed.
Received: 29 June 2017 / Revised: 14 July 2017 / Accepted: 19 July 2017 / Published: 21 July 2017
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The development of a macular hole is relatively common in retinal dystrophies eligible for gene therapy such as choroideremia. However, the subretinal delivery of gene therapy requires an uninterrupted retina to allow dispersion of the viral vector. A macular hole may thus hinder effective gene therapy. Little is known about the outcome of macular hole surgery and its possible beneficial and/or adverse effects on retinal function in patients with choroideremia. We describe a case of a unilateral full-thickness macular hole (FTMH) in a 45year-old choroideremia patient (c.1349_1349+2dup mutation in CHM gene) and its management. Pars plana vitrectomy with internal limiting membrane (ILM) peeling and 20% SF6 gas tamponade was performed, and subsequent FTMH closure was confirmed at 4 weeks, 3 months and 5 months postoperatively. No postoperative adverse events occurred, and fixation stability improved on microperimetry from respectively 11% and 44% of fixation points located within a 1° and 2° radius, preoperatively, to 94% and 100% postoperatively. This case underlines that pars plana vitrectomy with ILM peeling and gas tamponade can successfully close a FTMH in choroideremia patients, with subsequent structural and functional improvement. Macular hole closure may be important for patients to be eligible for future submacular gene therapy. View Full-Text
Keywords: CHM; choroideremia; macular hole; vitrectomy CHM; choroideremia; macular hole; vitrectomy

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Talib, M.; Koetsier, L.S.; MacLaren, R.E.; Boon, C.J. Outcome of Full-Thickness Macular Hole Surgery in Choroideremia. Genes 2017, 8, 187.

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