PURPOSE Retinitis pigmentosa (RP) is the most common diagnosis in the ophthalmic genetics' clinic. Women with RP are often diagnosed during their reproductive years, posing significant challenges for family planning. The effects of pregnancy on RP progression is a frequently unanswered concern for these patients. DESIGN Retrospective cohort study. SUBJECTS Women who attended Moorfields Eye Hospital (London, UK) and met the following inclusion criteria were included in this study: (i) had their most recent visit at 30 years old or more, (ii) were diagnosed with RP, (iii) had information in their medical records about having had children, and (iv) were found to have biallelic rare or likely disease-causing variants in USH2A. METHODS The cohort was divided into parous and nulliparous, and multivariate Cox regressions adjusting for multiple confounding effects was performed. A further analysis also included number of children as a variable. MAIN OUTCOME MEASURES RP severity criteria based on visual acuity (VA) and ellipsoid zone (EZ) width, and national registration of sight impairment. RESULTS 142 women were included in the study, 98 parous (69%) and 44 nulliparous (31%). In the parous group, 21% had cystoid macular oedema (CMO) requiring treatment and 46% had cataracts or were pseudophakic, versus 18% with CMO and 59% with cataracts in the nulliparous. Women had a median of 2 children. A significant association was only found in parous women having 3.04 (1.23-7.48) times increased risk of having VA worse than LogMAR 0.7 than nulliparous (p= 0.016), after adjusting for baseline age, phenotype, cataract status, and CMO. CONCLUSIONS This is the first large-scale objective study analysing the effects of pregnancy in genetically-confirmed women with RP. Women with USH2A-associated RP who had children appeared to have 3.04 times the risk of reaching VA below 6/24 than those who did not have children. It is possible that other factors besides retinal degeneration are affecting central vision and causing this increased risk. A significant association between faster or slower EZ loss and pregnancy was not present in our cohort. We believe these findings will be relevant to all women with RP considering starting a family; although further studies are needed.

中文翻译：

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怀孕对色素性视网膜炎疾病进展的影响。


目的 视网膜色素变性 （RP） 是眼科遗传学诊所最常见的诊断。患有 RP 的女性通常在育龄期被诊断出来，这对计划生育构成了重大挑战。妊娠对 RP 进展的影响是这些患者经常未得到解答的问题。设计 回顾性队列研究。受试者 就读于 Moorfields 眼科医院（英国伦敦）并符合以下纳入标准的女性被纳入本研究：（i） 最近一次就诊时年龄为 30 岁或以上，（ii） 被诊断患有 RP，（iii） 她们的病历中有关于生过孩子的信息，以及 （iv） 被发现在 USH2A 中具有双等位基因罕见或可能的致病变异。方法 将队列分为胎生和未产，并进行多变量 Cox 回归调整多种混杂效应。进一步的分析还包括儿童数量作为变量。主要结局指标 基于视力 （VA） 和椭球区 （EZ） 宽度的 RP 严重程度标准，以及视力障碍的国家登记。结果 研究纳入 142 名妇女，其中 98 名经产妇 （69%） 和 44 名未产妇 （31%）。在经产组中，21% 患有需要治疗的黄斑囊样水肿 （CMO），46% 患有白内障或假晶状体，而 CMO 组为 18%，未产妇为 59% 患有白内障。女性的中位数为 2 个孩子。在调整基线年龄、表型、白内障状态和 CMO 后，仅在经产妇中发现显著关联，VA 风险比 LogMAR 差 0.7 倍 （p=0.016）。结论 这是第一项分析妊娠对遗传证实的 RP 女性影响的大规模客观研究。 有孩子的 USH2A 相关 RP 女性达到 VA 低于 6/24 的风险似乎是没有孩子的女性的 3.04 倍。除视网膜变性外，其他因素可能影响中央视力并导致风险增加。在我们的队列中，更快或更慢的 EZ 丢失与怀孕之间不存在显着关联。我们相信这些发现将与所有考虑组建家庭的 RP 女性相关;尽管还需要进一步的研究。