PDF(Pubmed)
Abstract：
BACKGROUND: Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSNB and investigate myopic progression under genetic cause.
RESULTS: Sixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes were NYX, CACNA1F, and TRPM1. Myopia (96.61%, 57/59) was the most common clinical finding, followed by nystagmus (62.71%, 37/59), strabismus (52.54%, 31/59), and nyctalopia (49.15%, 29/59). An average SE of -7.73 ± 3.37 D progressed to -9.14 ± 2.09 D in NYX patients with myopia, from - 2.24 ± 1.53 D to -4.42 ± 1.43 D in those with CACNA1F, and from - 5.21 ± 2.89 D to -9.24 ± 3.16 D in those with TRPM1 during the 3-year follow-up; the TRPM1 group showed the most rapid progression.
CONCLUSIONS: High myopia and strabismus are distinct clinical features of CSNB that are helpful for diagnosis. The novel variants identified in this study will further expand the knowledge of variants in CSNB and help explore the molecular mechanisms of CSNB.
RESULTS: Sixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes were NYX, CACNA1F, and TRPM1. Myopia (96.61%, 57/59) was the most common clinical finding, followed by nystagmus (62.71%, 37/59), strabismus (52.54%, 31/59), and nyctalopia (49.15%, 29/59). An average SE of -7.73 ± 3.37 D progressed to -9.14 ± 2.09 D in NYX patients with myopia, from - 2.24 ± 1.53 D to -4.42 ± 1.43 D in those with CACNA1F, and from - 5.21 ± 2.89 D to -9.24 ± 3.16 D in those with TRPM1 during the 3-year follow-up; the TRPM1 group showed the most rapid progression.
CONCLUSIONS: High myopia and strabismus are distinct clinical features of CSNB that are helpful for diagnosis. The novel variants identified in this study will further expand the knowledge of variants in CSNB and help explore the molecular mechanisms of CSNB.
摘要：
背景：先天性静止性夜盲症（CSNB）是一种遗传性视网膜疾病。大多数患者患有近视。本研究旨在描述59例CSNB患者的临床和遗传特征，并研究遗传原因下的近视进展。
结果：在59例CSNB患者中检测到65个变异，包括32个新的和33个报告的变体。最常见的基因是NYX，CACNA1F,和TRPM1。近视（96.61%，57/59）是最常见的临床发现，其次是眼球震颤(62.71%，37/59),斜视（52.54%，31/59），和夜蛾(49.15%，29/59).NYX近视患者的平均SE为-7.73±3.37D，至-9.14±2.09D，从-2.24±1.53D到-4.42±1.43D，在那些有CACNA1F的人中，在3年的随访中，TRPM1患者从-5.21±2.89D降至-9.24±3.16D；TRPM1组表现出最快的进展。
结论：高度近视和斜视是CSNB的独特临床特征，有助于诊断。本研究中确定的新变体将进一步扩展CSNB中变体的知识，并有助于探索CSNB的分子机制。
结果：在59例CSNB患者中检测到65个变异，包括32个新的和33个报告的变体。最常见的基因是NYX，CACNA1F,和TRPM1。近视（96.61%，57/59）是最常见的临床发现，其次是眼球震颤(62.71%，37/59),斜视（52.54%，31/59），和夜蛾(49.15%，29/59).NYX近视患者的平均SE为-7.73±3.37D，至-9.14±2.09D，从-2.24±1.53D到-4.42±1.43D，在那些有CACNA1F的人中，在3年的随访中，TRPM1患者从-5.21±2.89D降至-9.24±3.16D；TRPM1组表现出最快的进展。
结论：高度近视和斜视是CSNB的独特临床特征，有助于诊断。本研究中确定的新变体将进一步扩展CSNB中变体的知识，并有助于探索CSNB的分子机制。
