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Martin S. Zinkernagel, Markus Groppe, Robert E. MacLaren; Full Thickness Macular Hole In Choroideremia Patients: Surgical Management And Outcome. Invest. Ophthalmol. Vis. Sci. 2012;53(14):3779.
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Choroideremia (CHM) is a progressive X-linked degeneration of the choroid, retinal pigment epithelium and retina and is caused by a null mutation leading to absence of the Rab escort protein-1 (REP1). Central vision is usually affected only in the late stages of the disease.
Three patients affected with choroideremia were diagnosed by spectral domain OCT with full thickness macular hole affecting the residual viable retinal islands. All patients underwent 23 gauge pars plana vitrectomy, peeling of the internal limiting membrane (ILM) and gas tamponade. Macular hole closure, visual recovery and duration of gas tamponade were analysed.
The ILM was present and peeled without difficulties in all patients. The postoperative course was without complications. Anatomical closure of the macular hole was achieved and confirmed with spectral domain OCT. Objective visual acuity did not improve significantly, however perceived visual acuity improved in all patients. Gas tamponade lasted longer than in normal subjects probably due to impaired function of the RPE and choroid.
Macular hole in CHM is a rare finding but can potentially mask central progression of the disease. However, as it may impair the remaining central retinal island, its diagnosis and appropriate management are crucial. Furthermore, hole closure and preservation of the remaining retina are important for future gene transfer procedures in these patients.
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