Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked IRDs have a single copy of the disease-causing gene, and therefore, may exhibit variable clinical signs that vary from near normal retina to severe disease and vision loss. The relationships between individual genetic mutations and disease severity in X-linked carriers requires further study.

This review summarises the current literature surrounding the spectrum of disease seen in female carriers of choroideremia and X-linked retinitis pigmentosa. Various classification systems are contrasted to accurately grade retinal disease. Furthermore, genetic mechanisms at the early embryonic stage are explored to potentially explain the variability of disease seen in female carriers.

Future research in this area will provide insight into the association between genotype and retinal phenotypes of female carriers, which will guide in the management of these patients. This review acknowledges the importance of identifying which patients may be at high risk of developing severe symptoms, and therefore should be considered for emerging treatments, such as retinal gene therapy.

遗传性视网膜疾病 (IRD) 是一组导致进行性视力丧失的异质性疾病，通常是由于单基因突变所致。X连锁IRD的女性携带者具有单一的致病基因拷贝，因此可能表现出不同的临床症状，从接近正常的视网膜到严重的疾病和视力丧失。X连锁携带者个体基因突变与疾病严重程度之间的关系需要进一步研究。

本综述总结了有关无脉络膜血症和 X 连锁视网膜色素变性女性携带者疾病谱的当前文献。对比各种分类系统，可以准确分级视网膜疾病。此外，还探索了早期胚胎阶段的遗传机制，以潜在地解释女性携带者疾病的变异性。

该领域的未来研究将深入了解女性携带者基因型和视网膜表型之间的关联，这将指导这些患者的管理。该综述承认确定哪些患者可能有出现严重症状的高风险的重要性，因此应考虑采用新兴治疗方法，例如视网膜基因治疗。