Othman Abdulrahman Ahmad, Othman Lama Ahmad, Shaban Rema Ahmad, Marzouk Zeina Zakarya, Almohammad Taha, Sadeq Diaa Abulhameed, Al Hasan Salem Ahmad, Al-Aboud Ahmed Aboud, Kfri Mohammed Nour, Albostani Mohamad Yazan Mohamad Alshehni, Sleiay Bilal
Medizinische Fakultät der Universität des Saarlandes, Saarland, Germany.
Eberhard Karls Universität Tübingen - Naturwissenschaftliche Fakultät (Pharmazeutisches Institut),Tübingen, Germany.
Ann Med Surg (Lond). 2025 Mar 7;87(4):2417-2420. doi: 10.1097/MS9.0000000000003102. eCollection 2025 Apr.
Bietti crystalline dystrophy (BCD) is a rare, inherited eye disease that causes progressive damage to the back of the eye (chorioretinal atrophy), characterized by sparkling crystals in the cornea and retina.
A 30-year-old man presented with gradual vision loss in both eyes. Fundus photography revealed retinal crystals and retinal pigment epithelium atrophy, consistent with BCD. Enhanced depth imaging optical coherence tomography confirmed retinal and choroidal abnormalities, supporting the diagnosis. Genetic testing was not performed due to financial constraints.
Subretinal rAAV2/8-hCYP4V2 gene therapy for BCD is safe and effective, but COVID-19 or AAV8 antibodies may hinder its efficacy. VFQ-25 correlates with visual acuity improvement. Hypertriglyceridemia and hypercholesterolemia were observed as potential side effects.
Health care professionals should be vigilant in recognizing rare eye diseases like BCD, even in uncommon regions. Further research is crucial to understand BCD, develop treatments, and improve the quality of life for affected individuals.
比耶蒂结晶状营养不良（BCD）是一种罕见的遗传性眼病，会对眼后部（脉络膜视网膜萎缩）造成渐进性损害，其特征是角膜和视网膜出现闪烁的晶体。
一名30岁男性出现双眼逐渐视力丧失。眼底摄影显示视网膜晶体和视网膜色素上皮萎缩，符合BCD表现。增强深度成像光学相干断层扫描证实了视网膜和脉络膜异常，支持该诊断。由于经济限制未进行基因检测。
用于BCD的视网膜下重组腺相关病毒2/8-hCYP4V2基因治疗安全有效，但新冠病毒或腺相关病毒8型抗体可能会阻碍其疗效。视觉功能问卷25项（VFQ-25）与视力改善相关。观察到高甘油三酯血症和高胆固醇血症为潜在副作用。
医疗保健专业人员应警惕识别像BCD这样的罕见眼病，即使在不常见地区。进一步研究对于了解BCD、开发治疗方法以及改善受影响个体的生活质量至关重要。
