Closure of a full-thickness macular hole without vitrectomy in choroideraemia

摘要

Choroideraemia is a rare X-linked chorioretinal disease characterised by progressive degeneration of the retina, retinal pigment epithelium (RPE) and choroid. 1 The causes of choroideraemia have been reported to be pathogenic variants in the CHM gene, encoding Rab escort protein 1.(2,3) In affected males, although progressive loss of the visual fields is commonly seen, the central vision is usually maintained until middle age. On the other hand, female carriers generally have good visual acuities but frequently show fundus abnormalities. Moreover, a recent study revealed that female carriers had reduced microperimetric sensitivity.(4) Macular hole (MH) formation is a rare complication in inherited chorioretinal diseases and its occurrence in choroideraemia patients has been reported rarely in the literature. This report presents details on a choroideraemic patient with a full-thickness MH that closed without having to undergo vitrectomy surgery.