Primary and Secondary Cone Cell Death Mechanisms in Inherited Retinal Diseases and Potential Treatment Options.
Primary and Secondary Cone Cell Death Mechanisms in Inherited Retinal Diseases and Potential Treatment Options.
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DOI：
10.3390/ijms23020726
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发表时间：
2022-01-10
影响因子：
5.6
通讯作者：
Carvalho LS
中科院分区：
文献类型：
--
作者：
Brunet AA;Harvey AR;Carvalho LS
遗传性视网膜疾病（IRD）是导致失明的主要原因。到目前为止，已经确定了260种致病基因，但目前缺乏有效的治疗方案。视锥光感受器负责日光视觉，但对疾病进展高度敏感，视锥介导的视觉的丧失对IRD患者的生活质量具有最大的影响。视锥退化可以通过视锥特异性基因的突变直接发生（原发性视锥死亡），也可以通过视杆的原发性退化随后视锥的退化间接发生（继发性视锥死亡）。视锥细胞如何因病理突变而退化仍不清楚，阻碍了IRD有效疗法的发展。本文综述了遗传性视网膜疾病中原发性和继发性视锥细胞死亡之间的异同，以更好地定义视锥细胞死亡机制，并进一步确定潜在的治疗方案。
Inherited retinal diseases (IRDs) are a leading cause of blindness. To date, 260 disease-causing genes have been identified, but there is currently a lack of available and effective treatment options. Cone photoreceptors are responsible for daylight vision but are highly susceptible to disease progression, the loss of cone-mediated vision having the highest impact on the quality of life of IRD patients. Cone degeneration can occur either directly via mutations in cone-specific genes (primary cone death), or indirectly via the primary degeneration of rods followed by subsequent degeneration of cones (secondary cone death). How cones degenerate as a result of pathological mutations remains unclear, hindering the development of effective therapies for IRDs. This review aims to highlight similarities and differences between primary and secondary cone cell death in inherited retinal diseases in order to better define cone death mechanisms and further identify potential treatment options.
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