title: Macular hole surgery in patients with end-stage choroideremia.
abstract: OBJECTIVE
  To assess macular hole surgery in patients with end-stage choroideremia with regard to anatomic closure and visual outcome.
  
  
  METHODS
  Retrospective, interventional case series.
  
  
  METHODS
  Thirty adult male patients with a diagnosis of advanced choroideremia were reviewed and underwent spectral domain optical coherence tomography (OCT) as part of the screening process for a gene therapy clinical trial. From within that cohort, 3 were identified as having a full-thickness macular hole (FTMH).
  
  
  METHODS
  A 23-gauge pars plana vitrectomy was performed with peeling of the inner limiting membrane and gas tamponade. Preoperative best-corrected visual acuity ranged from perception of light to 6/24.
  
  
  METHODS
  Prevalence of FTMH in advanced choroideremia, morphologic phenotype characteristics of FTMH in OCT, pre- and postoperative best-corrected visual acuity, and closure rate after surgery.
  
  
  RESULTS
  The prevalence of FTMH in advanced choroideremia in our cohort was 10%. One hole was associated with significant macular schisis, presumed to be attributable to degeneration of outer retinal layers. Anatomic closure was achieved in all 3 patients and confirmed with spectral domain OCT. Gas tamponade lasted approximately twice as long as might be expected compared with standard FTMH surgery. Objective visual acuity did not improve; however, perceived vision improved in all patients.
  
  
  CONCLUSIONS
  Although FTMH in choroideremia is a rare finding, it could potentially mask central progression of the disease. Regular screening may help to diagnose holes at an earlier stage when the visual prognosis after surgery may be better. Standard macular hole surgery seems to be effective in gaining anatomic closure, which would be significant for patients who subsequently require macula detachment for subretinal gene therapy.
  
  
  BACKGROUND
  The authors have no proprietary or commercial interest in any of the materials discussed in this article.
authors.affiliation: Oxford Eye Hospital and Oxford University Hospitals, NHS Trust NIHR Biomedical Research Centre, John Radcliffe Hospital, Headley Way, Headington, UK. m.zinkernagel@gmail.com
authors.forename: Martin S
authors.initials: MS
authors.lastname: Zinkernagel
authors.forename: Markus
authors.initials: M
authors.lastname: Groppe
authors.forename: Robert E
authors.initials: RE
authors.lastname: MacLaren
mesh_terms: D015794:Choroideremia / Q000150:complications / Q000503:physiopathology / Q000601:surgery*; D058450:Endotamponade; D019773:Epiretinal Membrane / Q000601:surgery; D005451:Fluorescein Angiography; D005466:Fluorocarbons / Q000008:administration & dosage; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012167:Retinal Perforations / Q000209:etiology / Q000503:physiopathology / Q000601:surgery*; D012189:Retrospective Studies; D013459:Sulfur Hexafluoride / Q000008:administration & dosage; D041623:Tomography, Optical Coherence; D016896:Treatment Outcome; D014792:Visual Acuity / Q000502:physiology; D014821:Vitrectomy
chemical_list: D005466:Fluorocarbons; C042852:perflutren; D013459:Sulfur Hexafluoride