Abstract
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.
Highlights
Choroideremia (CHM) is an X-linked recessive, progressive degeneration of the retinal pigment epithelium (RPE), outer retina, and choroid
As many as 10% of advanced CHM patients may develop a macular hole, possibly due to increased vulnerability of the fovea to anteroposterior vitreous traction, tangential tractional forces of the inner limiting membrane (ILM)/epiretinal membrane, and/or chronic low-grade inflammation resulting from outer retinal cell death
We described a full-thickness macular hole (FTMH) in a patient with genetically confirmed CHM, which was successfully managed with pars plana vitrectomy, and epiretinal membrane (ERM) and ILM peeling, leading to a mild subjective improvement as well as improvement of retinal structure and function on OCT and microperimetry, respectively
Summary
Choroideremia (CHM) is an X-linked recessive, progressive degeneration of the retinal pigment epithelium (RPE), outer retina, and choroid. It is caused by mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). Few studies have reported cases of a macular hole in CHM patients, which may occur in up to. Little is known about the outcome of macular hole surgery and possible beneficial and/or adverse effects of vitrectomy surgery and inner limiting membrane (ILM) peeling on retinal function. We describe the clinical findings and outcome of pars plana vitrectomy with ILM peeling and gas tamponade in a CHM patient with a full-thickness macular hole (FTMH)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
