Yang Xuan, Yin Shiyi, Wang Jinyuan, Zhang Haihan, Liang Chuqiao, Luo Jingting, Zhao Shiqiang, Wei Wenbin
Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
School of Clinical Medicine, Tsinghua University, Beijing, 100084, China.
Sci China Life Sci. 2025 Jul 8. doi: 10.1007/s11427-024-2812-2.
In this cross-sectional observational study, we conducted comprehensive ophthalmic evaluations, including fundus imaging, fundus autofluorescence (FAF), swept-source optical coherence tomography (SS-OCT), microperimetry, and electroretinography, in 164 patients with Bietti crystalline dystrophy (BCD) from 159 families. The mean age of onset was (29.9±8.9) years, with night blindness being the most common onset symptom (54.3%). FAF revealed diffuse hypoautofluorescence in 86.7% of eyes, and SS-OCT identified outer retinal tabulations (ORTs) in 69.9% of eyes, indicative of severe retinal pigment epithelium (RPE) dysfunction. Microperimetry demonstrated a gradual decline in retinal sensitivity and fixation stability with disease progression, particularly in advanced stages. We identified 34 distinct CYP4V2 variants, three of which were novel. Patients with biallelic truncating mutations experienced earlier disease onset and progressed to legal blindness at a younger age. These findings provide a comprehensive overview of structural and functional deterioration in BCD and underscore the significant impact of truncating mutations on disease progression.
在这项横断面观察性研究中，我们对来自159个家庭的164例贝氏结晶状视网膜变性（BCD）患者进行了全面的眼科评估，包括眼底成像、眼底自发荧光（FAF）、扫频光学相干断层扫描（SS-OCT）、微视野计检查和视网膜电图检查。平均发病年龄为（29.9±8.9）岁，夜盲是最常见的首发症状（54.3%）。FAF显示86.7%的眼睛存在弥漫性低自发荧光，SS-OCT在69.9%的眼睛中识别出外层视网膜板层（ORTs），提示严重的视网膜色素上皮（RPE）功能障碍。微视野计检查表明，随着疾病进展，视网膜敏感度和固视稳定性逐渐下降，尤其是在疾病晚期。我们鉴定出34种不同的CYP4V2变异体，其中三种是新发现的。双等位基因截短突变的患者发病较早，且在较年轻时发展为法定失明。这些发现全面概述了BCD的结构和功能恶化情况，并强调了截短突变对疾病进展的重大影响。
