Liu Jing, Wang Minshu, Pang Honglei, Liu Feng, Bu Juan
Department of Ophthalmology, Peking University Third Hospital, Beijing, China.
Beijing Key Laboratory of restoration of damaged ocular nerve, Peking University Third Hospital, Beijing, China.
Heliyon. 2024 Jul 2;10(14):e33683. doi: 10.1016/j.heliyon.2024.e33683. eCollection 2024 Jul 30.
This study aimed to assess the effectiveness of surgery in the management of vertical compensatory head posture in patients with congenital nystagmus (CN) inherited in an X-linked manner in a Chinese family and determine the molecular pathogenesis of this disease.
We studied 18 members belonging to four generations in a family with congenital nystagmus. Parks shift of neutral zone surgeries were performed on 7 patients with vertical compensatory head posture from the family. In addition, head posture, visual acuity, and stereopsis of the 7 patients were evaluated before and 2-years after the displacement surgeries. Gene alternations of the disease were researched by sequencing a candidate gene (). From each generation of the family, one patient (including the proband) and one normal control were sampled for Sanger sequencing.
Over a median follow-up period of 2 years, the anomalous head posture, visual acuity, and stereopsis significantly improved postoperatively (P < 0.05). Sanger sequencing revealed that a variant c.586G > T (p.D196Y) in exon 7 of was co-segregated with the disease in this family.
Parks shift of neutral zone surgeries relieved the vertical compensatory head posture and improved visual acuity and stereopsis in the primary position of CN patients. In this study, it was concluded that a missense mutation in exon 7 (c.586G > 7, p.D196Y) in was possibly responsible for the disease in this family.
本研究旨在评估手术治疗一个中国家族中X连锁遗传的先天性眼球震颤（CN）患者垂直代偿性头位的有效性，并确定该疾病的分子发病机制。
我们研究了一个先天性眼球震颤家族的四代18名成员。对该家族中7例有垂直代偿性头位的患者进行了中性带手术的帕克斯移位。此外，对这7例患者在移位手术前后的头位、视力和立体视进行了评估。通过对一个候选基因进行测序来研究该疾病的基因改变。从该家族的每一代中，选取一名患者（包括先证者）和一名正常对照进行桑格测序。
在中位随访期2年时，异常头位、视力和立体视在术后显著改善（P < 0.05）。桑格测序显示，该家族中一个基因外显子7中的变异c.586G > T（p.D196Y）与疾病共分离。
中性带手术的帕克斯移位缓解了CN患者的垂直代偿性头位，并改善了其在原在位的视力和立体视。在本研究中，得出结论认为该基因外显子7中的错义突变（c.586G > 7，p.D196Y）可能是该家族中该疾病的病因。
