背景：Bietti晶体营养不良主要是由CYP4V2突变引起的视网膜营养不良，通常在后眼底出现晶体视网膜沉积。
方法：我们介绍了一名39岁健康的伊朗妇女，她没有眼部疾病家族史，在就诊前2年出现进行性视力丧失。眼部检查显示双眼视神经头部边缘模糊和弥漫性视网膜晶体沉积。谱域光学相干断层扫描图像显示视网膜晶体，大部分位于视网膜外层,与一些区域的外视网膜管和外视网膜层的衰减。晶体沉积物在近红外图像上作为超反射斑点更好地可视化。眼底自发荧光图像显示视神经乳头上的高自发荧光区域与视神经乳头玻璃疣一致，视网膜后部的大的低自发荧光区域与视网膜色素上皮萎缩一致。通过血液检测排除了胱抑素。
结论：Bietti晶体营养不良可能与视神经头玻璃疣有关。
BACKGROUND: Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus.
METHODS: We present the
case of an otherwise healthy 39-year-old Iranian woman with no family history of ocular disease who suffered with progressive vision loss that had started 2 years prior to presentation. Ocular examination revealed blurry optic nerve head margin and diffuse retinal crystalline deposit in both eyes. Spectral domain optical coherence tomography images showed retinal crystals, located mostly in outer retinal layers, with some areas of outer retinal tubulation and attenuation of outer retinal layers. Crystalline deposits were better visualized on near-infrared images as hyperreflective spots. Fundus autofluorescence images showed hyperautofluorescence areas on optic nerve head consistent with optic nerve head drusen and large hypoautofluorescence areas in posterior retina consistent with retinal pigment epithelium atrophy. Cystinosis was ruled out by blood testing.
CONCLUSIONS: Bietti crystalline dystrophy may be associated with optic nerve head drusen.
