Iragavarapu Saradha, Gorin Michael B
Department of Ophthalmology , UCLA, Los Angeles, CA , USA and.
Curr Eye Res. 2015 Feb;40(2):128-45. doi: 10.3109/02713683.2014.932813. Epub 2014 Jul 14.
This review is intended to summarize the current knowledge from basic science and clinical medical literature cited within PubMed that pertain to gender-related factors and affect those individuals with hereditary ocular disorders. We consider gender-related biological factors that (a) affect disease onset and progression, (b) gender differences for major X-linked ocular disorders, (c) gender-specific conditions, (d) medications that may influence genetic eye disorders, and finally, (e) gender-related issues that influence the management and quality of life of these patients. Several studies have demonstrated the manner in which sex-related hormones in animal models are capable of influencing cell pathway and survival that are likely to affect hereditary eye disorders. There are very few clinical studies that provide compelling evidence for gender differences in human ocular conditions, other than for a number of X-linked disorders. Disease expression for X-linked disorders may be impacted by genetic mechanisms such as lyonization or uniparental disomy. Clinical evidence regarding the impact of gender-related medical conditions and therapies on eye conditions is extremely limited and primarily based on anecdotal evidence. Gender-specific factors may play a major role in the underlying biological pathways that influence the onset, rate of progression, and clinical findings associated with ocular genetic conditions. Clinicians need to be aware of the variable phenotypes observed in female carriers of X-linked disorders of gender specific issues, many of which are inadequately addressed in the current literature. Clinicians need to be sensitive to gender differences in social, cultural, and religious systems and they should also be aware of how their own gender biases may influence how they counsel patients. Finally, it is clear that the lack of effective clinical studies in this area creates an opportunity for future research that will have real benefits for these patients.
本综述旨在总结来自PubMed中引用的基础科学和临床医学文献的当前知识，这些知识与性别相关因素有关，并影响患有遗传性眼病的个体。我们考虑性别相关的生物学因素，包括：（a）影响疾病发作和进展的因素；（b）主要X连锁眼病的性别差异；（c）性别特异性疾病；（d）可能影响遗传性眼病的药物；最后，（e）影响这些患者管理和生活质量的性别相关问题。多项研究已经证明了动物模型中的性激素能够影响细胞通路和存活的方式，而这些通路和存活可能会影响遗传性眼病。除了一些X连锁疾病外，很少有临床研究能为人类眼部疾病中的性别差异提供令人信服的证据。X连锁疾病的疾病表达可能会受到诸如X染色体失活或单亲二体等遗传机制的影响。关于性别相关的医疗状况和治疗对眼部状况影响的临床证据极其有限，主要基于轶事证据。性别特异性因素可能在影响眼部遗传疾病的发病、进展速度和临床发现的潜在生物学途径中起主要作用。临床医生需要意识到在X连锁疾病女性携带者中观察到的可变表型以及性别特异性问题，其中许多在当前文献中并未得到充分探讨。临床医生需要对社会、文化和宗教系统中的性别差异保持敏感，他们还应该意识到自己的性别偏见可能会如何影响他们为患者提供咨询。最后，很明显，该领域缺乏有效的临床研究为未来的研究创造了机会，这将对这些患者带来实际益处。
