Clinical findings in a choroideremia patient who underwent vitrectomy for retinal detachment associated with macular hole.

摘要

Choroideremia is an X-linked, hereditary disorder characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE), and retina. The responsible gene, CHM, encodes Rab escorting protein 1 (REP-1), which relates to intracellular vesicular transport.1 Retinal detachment associated with macular hole develops predominantly in highly myopic eyes in the presence of tangential macular traction caused by vitreous degeneration.2 Here, we describe the clinical findings in a choroideremia patient who suffered from retinal detachment associated with macular hole. The unique intraoperative findings may improve our understanding of the pathological conditions of choroideremia.