Igelman Austin D, White Elizabeth, Tayyib Alaa, Everett Lesley, Vincent Ajoy, Heon Elise, Zeitz Christina, Michaelides Michel, Mahroo Omar A, Katta Mohamed, Webster Andrew, Preising Markus, Lorenz Birgit, Khateb Samer, Banin Eyal, Sharon Dror, Luski Shahar, Van Den Broeck Filip, Leroy Bart Peter, De Baere Elfride, Walraedt Sophie, Stingl Katarina, Kuehlewein Laura, Kohl Susanne, Reith Milda, Fulton Anne, Raghuram Aparna, Meunier Isabelle, Dollfus Hélène, Aleman Tomas S, Bedoukian Emma C, O'Neil Erin C, Krauss Emily, Vincent Andrea, Jordan Charlotte, Iannaccone Alessandro, Sen Parveen, Sundaramurthy Srilekha, Nagasamy Soumittra, Balikova Irina, Casteels Ingele, Borooah Shyamanga, Yassin Shaden, Nagiel Aaron, Schwartz Hillary, Zanlonghi Xavier, Gottlob Irene, McLean Rebecca J, Munier Francis L, Stephenson Andrew, Sisk Robert, Koenekoop Robert, Wilson Lorri B, Fredrick Douglas, Choi Dongseok, Yang Paul, Pennesi Mark Edward
Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA.
The Hospital for Sick Children, Toronto, Ontario, Canada.
Br J Ophthalmol. 2025 Jan 28;109(2):286-292. doi: 10.1136/bjo-2023-323747.
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 , and . 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.
This multicentre, retrospective study explored CSNB caused by variants in , or 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.
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 , and respectively. Additionally, significant progression of myopia per year (-0.254D, -0.257D and -0.326D) was observed for all three genotypes , and , respectively.
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.
背景/目的：先天性静止性夜盲（CSNB）是一种遗传性视网膜疾病，常与高度近视相关，可由多个基因的病理性变异引起，最常见的是 、 和 。高度近视与视网膜变性及视网膜脱离风险增加有关。减缓CSNB患者近视的进展可能有助于降低风险，但在考虑干预措施之前，了解近视进展的自然史很重要。
这项多中心回顾性研究探讨了由 、 或 基因变异导致的CSNB，研究对象为18岁之前至少有6次等效球镜度（SER）测量值的患者。采用混合效应模型预测SER随时间的进展情况，并评估不同基因型之间的差异。
本研究纳入了78名个体。所有基因型在出生时均显示出显著的近视预测SER（ 、 和 分别为-3.076D、-5.511D和-5.386D）。此外，所有三种基因型 、 和 每年均观察到显著的近视进展（分别为-0.254D、-0.257D和-0.326D）。
CSNB患者往往从小就近视，且随着年龄增长近视程度会进一步加深。患者未来可能会从长期减缓近视的治疗中获益，因此需要进一步研究。此外，在早发性近视的鉴别诊断中应考虑CSNB。
