Anatomic and Functional Recovery Following Surgical Repair of Full-Thickness Macular Hole in Choroideremia.

Purpose: To describe the clinical presentation, surgical management, and outcome of a full-thickness macular hole (FTMH) in a patient with choroideremia and to highlight unique intraoperative and postoperative considerations in this rare setting.

Methods

A single case was reviewed.

Results

A 30-year-old phakic man with a 7-year history of choroideremia presented with a 1-week history of vision loss in the left eye due to an FTMH. Pars plana vitrectomy with internal limiting membrane (ILM) peeling was performed. Sparse, syneretic vitreous and a thin, friable ILM were noted intraoperatively. Postoperatively, delayed resorption of gas tamponade occurred, likely related to choroideremia-associated vascular attenuation. The macular hole remained closed at the last follow-up of 6 months, with favorable anatomic and visual outcomes.

Conclusions

FTMH formation is a rare complication of choroideremia but has important implications for potential gene therapy. Despite unique surgical challenges, successful anatomic closure and favorable visual outcomes can be achieved with appropriate management.