Abstract：
Bietti crystalline corneo-retinal dystrophy (BCD) is an autosomal recessive inherited retinal dystrophy characterized by multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE), pigment clumps, and choroidal atrophy and sclerosis. Blindness and severe visual damage are common in late-stage BCD patients. We generated a Cyp4v3 knockout mouse model to investigate the pathogenesis of BCD. This model exhibits decreased RPE numbers and signs of inflammation response in the retina. Rod photoreceptors were vulnerable to light-induced injury, showing increased deposits through fundoscopy, a decrease in thickness and a loss of cells in the ONL, and the degeneration of rod photoreceptors. These results suggest that an inflammatory response might be an integral part of the pathophysiology of BCD, suggesting that it might be reasonable for BCD patients to avoid strong light, and the results provide a useful model for evaluating the effects of therapeutic approaches.
摘要：
Bietti晶体性角膜视网膜营养不良（BCD）是一种常染色体隐性遗传性视网膜营养不良，其特征是视网膜后极有多个闪烁的黄白色沉积物，并伴有视网膜色素上皮（RPE）的萎缩，色素团块，脉络膜萎缩和硬化.失明和严重的视力损害在晚期BCD患者中很常见。我们建立了Cyp4v3基因敲除小鼠模型来研究BCD的发病机制。该模型在视网膜中表现出减少的RPE数量和炎症反应的迹象。杆光感受器容易受到光诱导的损伤，通过眼底镜检查显示沉积物增加，ONL中厚度的减小和细胞的损失，和杆状光感受器的退化。这些结果表明，炎症反应可能是BCD病理生理学的一个组成部分，这表明BCD患者避免强光可能是合理的，结果为评估治疗方法的效果提供了一个有用的模型。
