未经授权:先天性静态夜盲(CSNB)构成一组非进行性视网膜疾病,其特征是暗视视力障碍和/或对黑暗的适应延迟,以及低视力,近视,眼球震颤,和斜视.色觉和眼底外观趋于正常。迄今为止,一些CACNA1F基因变异与CSNB表型相关,但只有少数报道集中在该疾病的视神经。
UNASSIGNED:12名患者接受了标准眼科和遗传学评估,包括谱域光学相干断层扫描(SD-OCT),全场视网膜电图(ffERG),动力学视野检查,眼底摄影,磁共振成像(MRI),和下一代测序(NGS)。乳头周围神经纤维层(pRNFL)和神经节细胞复合物(GCC)的双侧变薄支持视神经的参与。MRI,当可用时,评估了颅内视路的总体异常。
未经证实:所有患者都被证明在CACNA1F基因中携带致病变异,都有视神经受累的迹象.所有患者均有一定程度的近视性屈光不正。所有患者的平均pRNFL厚度均较低。其中三个,纵向评估pRNFL厚度并证明随时间稳定。所有病例的MRI成像均无明显变化。
UNASSIGNED:我们的数据支持以下假设:CACNA1F可能与早发性或先天性视神经受累有关,没有任何进行性视神经病变的迹象。即使需要来自更大队列和更长随访期的其他数据来进一步支持和确认我们的发现,我们的发现在为未来的CACNA1F基因治疗试验做准备时具有明确的意义.
Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or by a delay in adaptation to darkness, as well as by low visual acuity, myopia, nystagmus, and strabismus. Color vision and fundus appearance tend to be normal. To date, several CACNA1F gene variants have been linked to a CSNB phenotype but only few
reports have focused on the optic nerve in this disease.
Twelve patients underwent standard ophthalmological and genetic evaluation including spectral domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), kinetic perimetry, fundus photography, magnetic resonance imaging (MRI), and next-generation sequencing (NGS). Bilateral thinning of the peripapillary nerve fiber layer (pRNFL) and the ganglion cell complex (GCC) supported involvement of the optic nerves. MRI, when available, was assessed for gross intracranial optic pathway abnormalities.
All patients were shown to carry pathogenic variants in the CACNA1F gene, and all showed signs of optic nerve involvement. All patients showed a certain degree of myopic refractive error. Low average pRNFL thickness was evident in all patients. In three of them, pRNFL thickness was evaluated longitudinally and was proven to be stable over time. MRI imaging was unremarkable in all cases.
Our data support the hypothesis that CACNA1F could be related to early-onset or congenital optic nerve involvement without any signs of a progressive optic neuropathy. Even though additional data from larger cohorts and longer follow-up periods are needed to further support and confirm our findings, there is a clear significance to our findings in the preparation for future CACNA1F gene therapy trials.