Garli Murat, Kurna Sevda Aydin
Department of Ophthalmology, Health Sciences University, Fatih Sultan Mehmet Training and Research Hospital, Istanbul, Turkey.
North Clin Istanb. 2021 Oct 6;8(5):521-524. doi: 10.14744/nci.2019.78989. eCollection 2021.
In this study, ophthalmologic examination findings, fundus fluorescein angiography, optic coherence tomography (OCT), visual field testing, electrophysiological, and systemic laboratory findings of a 43-year-old female patient who presented with blurry vision and who had retinal and corneal deposits were examined. Our patients' best-corrected visual acuity was 0.9 bilaterally. Her anterior segments and intraocular pressures were bilaterally normal. Fundus examination revealed bilateral glistening yellowish intraretinal crystalline deposits in the posterior pole and midperipheral retina. The electroretinographic examination revealed a decrease in scotopic and photopic a and b wave amplitudes. Corneal and intraretinal glistening crystalloid deposits were observed in the OCT. Our patient and her husband were relatives. Her sister's, brother's, and children's OCT also revealed bilateral corneal and intraretinal crystalloid deposits. We diagnosed this case as Bietti's crystalline dystrophy which is a rare disease with genetic inheritance that must be considered in the differential diagnosis in countries in which consanguineous marriage is often.
在本研究中，对一名43岁女性患者进行了眼科检查结果、眼底荧光血管造影、光学相干断层扫描（OCT）、视野测试、电生理检查以及全身实验室检查，该患者出现视力模糊，并有视网膜和角膜沉积物。我们患者的最佳矫正视力双侧均为0.9。她的眼前节和眼压双侧均正常。眼底检查发现双侧后极部和中周边视网膜有闪亮的黄色视网膜内结晶沉积物。视网膜电图检查显示暗视和明视a波和b波振幅降低。在OCT中观察到角膜和视网膜内有闪亮的晶体沉积物。我们的患者与其丈夫是亲属。她姐姐、哥哥和孩子的OCT也显示双侧角膜和视网膜内有晶体沉积物。我们将此病例诊断为比埃蒂结晶性营养不良，这是一种罕见的具有遗传遗传性的疾病，在近亲结婚常见的国家，在鉴别诊断中必须予以考虑。
