Abstract：
To study the associations between RDH12 gene mutations, fundus types, and clinical manifestations. In total, 46 patients with inherited eye diseases caused by RDH12 gene mutations were included in this study. High-throughput chip capture sequencing, Sanger sequencing, and gene panel detection were used to determine that RDH12 was the pathogenic gene. All patients underwent the following detailed ophthalmic examinations: visual acuity, visual field, intraocular pressure, fundus photography, electroretinography, and optical coherence tomography (OCT). Statistical analysis was used to evaluate the clinical phenotype. A total of 32 mutations were identified in 46 patients. The most common mutations were c.437T > A, c.184C > T, and c.524C > T; the corresponding amino acid changes were p.Val146Asp, p.Arg62Ter, and p.Ser175Leu. Of the 46 patients, retinitis pigmentosa (RP) was found in 31 (68.9%); leber congenital amaurosis (LVA) was found in 11 (24.4%); early onset of severe retinal dystrophy (EOSRD) was found in one (2.2%); cone rod dystrophy (CORD) was found in one (2.2%); and Stargardt disease was found in one (2.2%). There was a significant difference in best-corrected visual acuity among patients based on fundus type (p = 0.0124). Linear trend analysis showed that best-corrected visual acuity gradually decreased as the fundus type increased in severity. In addition, there was a significant difference in the incidence of night blindness among patients with different fundus types (p = 0.0429): types I and IV fundi were associated with the highest incidences of night blindness. RDH12 gene mutation can cause serious inherited retinal diseases, which primarily include RP and LCA. Combined with clinical symptoms and fundus types, the progression of the disease can be characterized and used to guide genetic diagnosis and gene therapy.
摘要：
为了研究RDH12基因突变之间的关联，眼底类型,和临床表现。总的来说,本研究包括46例RDH12基因突变引起的遗传性眼病患者。高通量芯片捕获测序，桑格测序,并通过基因小组检测确定RDH12为致病基因。所有患者都接受了以下详细的眼科检查：视力，视野,眼内压,眼底摄影,视网膜电图,和光学相干断层扫描（OCT）。统计学分析用于评价临床表型。在46例患者中鉴定出32个突变。最常见的突变是c.437T>A，c.184C>T，和c.524C>T；相应的氨基酸变化是p.Val146Asp，p.Arg62Ter,和p.Ser175Leu.46名患者中,色素性视网膜炎（RP）31例（68.9％）；先天性黑蒙（LVA）11例（24.4％）；重度视网膜营养不良（EOSRD）的早期发作（2.2％）；锥杆营养不良（CORD）的发现（2.2％）；和Stargardt病的发现（2.2％）。根据眼底类型，患者的最佳矫正视力存在显着差异（p=0.0124）。线性趋势分析表明，最佳矫正视力随着眼底类型严重程度的增加而逐渐降低。此外,不同眼底类型患者的夜盲症发生率存在显著差异(p=0.0429):I型和IV型眼底与夜盲症发生率最高相关.RDH12基因突变可引起严重的遗传性视网膜疾病,主要包括RP和LCA。结合临床症状和眼底类型,可以表征疾病的进展并用于指导基因诊断和基因治疗。
