Becherucci Valentina, Bacci Giacomo Maria, Marziali Elisa, Sodi Andrea, Bambi Franco, Caputo Roberto
Cell Factory Meyer, Children's Hospital A. Meyer Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Florence, 50139 Florence, Italy.
Pediatric Ophthalmology Unit, Children's Hospital A. Meyer Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Florence, 50139 Florence, Italy.
Biomedicines. 2023 Sep 28;11(10):2656. doi: 10.3390/biomedicines11102656.
Retinitis pigmentosa, defined more properly as cone-rod dystrophy, is a paradigm of inherited diffuse retinal dystrophies, one of the rare diseases with the highest prevalence in the worldwide population and one of the main causes of low vision in the pediatric and elderly age groups. Advancements in and the understanding of molecular biology and gene-editing technologies have raised interest in laying the foundation for new therapeutic strategies for rare diseases. As a consequence, new possibilities for clinicians and patients are arising due to the feasibility of treating such a devastating disorder, reducing its complications. The scope of this review focuses on the pathomolecular mechanisms underlying RP better to understand the prospects of its treatment using innovative approaches.
视网膜色素变性,更确切地定义为锥杆营养不良,是遗传性弥漫性视网膜营养不良的一个范例,是全球人口中患病率最高的罕见疾病之一,也是儿童和老年人群低视力的主要原因之一。分子生物学和基因编辑技术的进步以及对它们的理解,引发了人们为罕见疾病的新治疗策略奠定基础的兴趣。因此,由于治疗这种毁灭性疾病并减少其并发症的可行性,临床医生和患者迎来了新的可能性。本综述的范围侧重于视网膜色素变性潜在的病理分子机制,以便更好地理解使用创新方法治疗该病的前景。