Background/Aaims Congenital stationary night blindness (CSNB) is an inherited retinal disease that is often associated with high myopia and can be caused by pathological variants in multiple genes, most commonly CACNA1F , NYX and TRPM1 . High myopia is associated with retinal degeneration and increased risk for retinal detachment. Slowing the progression of myopia in patients with CSNB would likely be beneficial in reducing risk, but before interventions can be considered, it is important to understand the natural history of myopic progression. Methods This multicentre, retrospective study explored CSNB caused by variants in CACNA1F , NYX or TRPM1 in patients who had at least 6 measurements of their spherical equivalent of refraction (SER) before the age of 18. A mixed-effect model was used to predict progression of SER overtime and differences between genotypes were evaluated. Results 78 individuals were included in this study. All genotypes showed a significant myopic predicted SER at birth (−3.076D, −5.511D and −5.386D) for CACNA1F , NYX and TRPM1 respectively. Additionally, significant progression of myopia per year (−0.254D, −0.257D and −0.326D) was observed for all three genotypes CACNA1F , NYX and TRPM1 , respectively. Conclusions Patients with CSNB tend to be myopic from an early age and progress to become more myopic with age. Patients may benefit from long-term myopia slowing treatment in the future and further studies are indicated. Additionally, CSNB should be considered in the differential diagnosis for early-onset myopia. Data are available upon reasonable request. We can provide data to individuals if they have a reasonable request.

中文翻译：

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先天性静止性夜盲症儿科患者屈光不正的特征：一项多中心研究


背景/目的 先天性静止性夜盲症 (CSNB) 是一种遗传性视网膜疾病，通常与高度近视相关，可由多个基因的病理变异引起，最常见的是 CACNA1F、NYX 和 TRPM1。高度近视与视网膜变性和视网膜脱离的风险增加有关。减缓 CSNB 患者近视进展可能有益于降低风险，但在考虑干预措施之前，了解近视进展的自然史非常重要。方法 这项多中心回顾性研究探讨了在 18 岁之前至少进行过 6 次球镜等效屈光 (SER) 测量的患者中由 CACNA1F 、NYX 或 TRPM1 变异引起的 CSNB。使用混合效应模型来预测进展评估了 SER 超时时间和基因型之间的差异。结果 78 人被纳入本研究。所有基因型的 CACNA1F 、NYX 和 TRPM1 均显示出生时显着的近视预测 SER（-3.076D、-5.511D 和 -5.386D）。此外，对于所有三种基因型 CACNA1F 、NYX 和 TRPM1 ，分别观察到近视每年显着进展（-0.254D、-0.257D 和 -0.326D）。结论 CSNB患者从小就有近视倾向，并且随着年龄的增长近视程度加深。未来患者可能会受益于长期近视减慢治疗，并且有进一步的研究表明。此外，在早发性近视的鉴别诊断中应考虑CSNB。数据可根据合理要求提供。如果个人有合理要求，我们可以向他们提供数据。