Karimi Saeed, Mohammad Bagheri Rafsanjani Niloofar
Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Science, Tehran, Iran.
Department of Ophthalmology, Torfeh Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
J Ophthalmic Vis Res. 2023 Jul 28;18(3):328-333. doi: 10.18502/jovr.v18i3.13781. eCollection 2023 Jul-Sep.
To report a case of Alport syndrome presenting with bilateral giant full-thickness macular holes, hypertensive chorioretinopathy, and exudative retinal detachment.
A 20 year-old man, a known case of Alport syndrome on hemodialysis, was referred to our clinic with bilateral vision loss initiated about 10 years prior to presentation, which exacerbated in the month prior to our visit. Bilateral large full-thickness macular holes, hypertensive chorioretinopathy, and exudative retinal detachment were detected in fundus examination. The patient had previous genetic counseling confirming the diagnosis of Alport syndrome. During follow-up, macular holes were covered with a thick epiretinal membrane and visual acuity decreased progressively in two weeks. Pars plana vitrectomy was performed in the right eye. Two weeks following surgery, the macular hole was closed and visual acuity improved significantly.
Bilateral giant full-thickness macular holes are uncommon presentations of Alport syndrome. The retinal findings may be caused by an inefficient type IV collagen presenting in the Bruch's membrane and in the internal limiting membrane. Pars plana vitrectomy can be considered to repair macular holes in these patients.
报告一例表现为双侧巨大全层黄斑裂孔、高血压性脉络膜视网膜病变和渗出性视网膜脱离的Alport综合征病例。
一名20岁男性，已知为接受血液透析的Alport综合征患者，因双侧视力丧失前来就诊，视力丧失始于就诊前约10年，并在就诊前一个月加重。眼底检查发现双侧巨大全层黄斑裂孔、高血压性脉络膜视网膜病变和渗出性视网膜脱离。患者此前接受过遗传咨询，确诊为Alport综合征。随访期间，黄斑裂孔被一层厚厚的视网膜前膜覆盖，视力在两周内逐渐下降。右眼进行了玻璃体切割术。术后两周，黄斑裂孔闭合，视力显著改善。
双侧巨大全层黄斑裂孔是Alport综合征的罕见表现。视网膜病变可能是由于布鲁赫膜和内界膜中存在的IV型胶原功能异常所致。对于这些患者，可考虑行玻璃体切割术修复黄斑裂孔。
