Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY, USA.
Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University, New York, NY, USA.
Sci Rep. 2022 Aug 29;12(1):14706. doi: 10.1038/s41598-022-16563-y.
Bietti crystalline dystrophy (BCD) is an ultra-rare orphan disorder that can lead to blindness. Because of the variable rates of progression of the disease, it is necessary to identify suitable outcome measurements for tracking progression in BCD. A retrospective analysis of patients with a clinical and genetic diagnosis of BCD was conducted. Four measurements of spectral domain-optical coherence tomography were compared to patients' best corrected visual acuity. We observed that patients with higher measurements of foveolar thickness, choroidal thickness in the foveolar region, ellipsoid zone band length and the outer nuclear layer + area, had on average better visual acuity. Future studies are needed to validate the structural-functional correlations we observed in BCD and to propose a sensitive and clinically meaningful outcome measurement for tracking this rare, variable disease.
Bietti 结晶性营养不良症（BCD）是一种罕见的孤儿病，可导致失明。由于疾病的进展速度不同，因此有必要确定合适的结果测量方法来跟踪 BCD 的进展。对具有 BCD 临床和遗传诊断的患者进行了回顾性分析。将四种频域光相干断层扫描测量值与患者的最佳矫正视力进行了比较。我们观察到，黄斑区中心凹厚度、中心凹区域脉络膜厚度、椭圆体带长度和外核层+区的测量值较高的患者，平均视力较好。需要进一步的研究来验证我们在 BCD 中观察到的结构-功能相关性，并提出一种敏感且具有临床意义的结果测量方法来跟踪这种罕见的、多变的疾病。
