Al-Hujaili Haneen, Taskintuna Ibrahim, Neuhaus Christine, Bergmann Carsten, Schatz Patrik
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
Ohud General Hospital Madinah, Kingdom of Saudi Arabia.
Mol Vis. 2019 Dec 19;25:851-858. eCollection 2019.
-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified. In addition, we describe retinal function and structure in two other siblings with the novel homozygous c.1394T>A (p.Met465Lys) missense mutation.
Clinical examination included full-field electroretinography, axial length measurements, and multimodal retinal imaging. Molecular genetic tests included next-generation sequencing and Sanger sequencing.
All patients had non-recordable rod responses and electronegative configuration of the rod-cone responses at presentation. There was a median of 26% reduction in the dark- and light-adapted electroretinographic (ERG) amplitudes over 4 years. Myopia progressed rapidly in childhood but showed only a mild progression after the teenage years. Visual acuities were stable over time, and there was no sign of progressive retinal thinning. All patients had axial myopia. A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in was identified in two siblings.
Further prospective study in larger samples is needed to establish whether there is progressive retinal degeneration in -associated CSNB. The associated myopia was found to be mainly axial, which has not been described previously. The mechanism of myopia development in this condition remains incompletely understood; however, it may be related to altered retinal dopamine signaling and amacrine cell dysfunction.
-相关的先天性静止性夜盲（CSNB）的特征为眼球震颤和高度近视。我们对先前鉴定出的一个家庭中两名携带纯合缺失c.2394delC（位于第18外显子）的兄弟姐妹进行了长达10年的长期随访，评估其视网膜功能和结构。此外，我们描述了另外两名携带新型纯合c.1394T>A（p.Met465Lys）错义突变的兄弟姐妹的视网膜功能和结构。
临床检查包括全视野视网膜电图、眼轴长度测量和多模态视网膜成像。分子遗传学检测包括下一代测序和桑格测序。
所有患者初诊时均无杆体反应记录，且杆体-锥体反应呈电阴性。在4年时间里，暗适应和明适应视网膜电图（ERG）振幅中位数降低了26%。近视在儿童期进展迅速，但青少年期后仅轻度进展。视力随时间保持稳定，且没有视网膜逐渐变薄的迹象。所有患者均为轴性近视。在两名兄弟姐妹中鉴定出一种新型纯合c.1394T>A（p.Met465Lys）错义突变。
需要在更大样本中进行进一步的前瞻性研究，以确定 -相关的CSNB是否存在进行性视网膜变性。发现相关近视主要为轴性，这在之前未曾有过描述。这种情况下近视发展的机制仍未完全了解；然而，它可能与视网膜多巴胺信号改变和无长突细胞功能障碍有关。
