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Abstract：
(1) Background: NR2E3 encodes a nuclear receptor transcription factor that is considered to promote cell differentiation, affect retinal development, and regulate phototransduction in rods and cones. This study aimed to analyze the clinical characteristics and observe the prognosis of autosomal dominant retinopathy (ADRP) and autosomal recessive retinopathy (ARRP) associated with NR2E3; (2) Methods: NR2E3 variants were collected from our exome sequencing data and identified per the American College of Medical Genetics and Genomics criteria. Data from our cohort and a systemic literature review were conducted to explore the NR2E3 variants spectrum and potential genotype-phenotype correlations; (3) Results: Nine pathogenic variants/likely pathogenic variants in NR2E3, including five novel variants, were detected in eight families (four each with ADRP and ARRP). Follow-up data showed schisis/atrophy in the macula and retinal degeneration initiation around the vascular arcades with differences in ADRP and ARRP. A systemic literature review indicated patients with ADRP presented better visual acuity (p < 0.01) and later onset age (p < 0.0001) than did those with ARRP; (4) Conclusions: Macular schisis and retinal degeneration around vascular arcades may present as the prognosis of NR2E3-retinopathy, dominant, or recessive. Our data might further enrich our understanding of NR2E3 variants and associated inherited retinopathy.
摘要：
(1)背景:NR2E3编码一种核受体转录因子,被认为可以促进细胞分化,影响视网膜发育，并调节杆和视锥细胞的光转导。本研究旨在分析与NR2E3相关的常染色体显性遗传性视网膜病变（ADRP）和常染色体隐性遗传性视网膜病变（ARRP）的临床特征并观察预后；（2）方法：从我们的外显子组测序数据中收集NR2E3变体，并根据美国医学遗传学和基因组学学院标准进行鉴定。我们的队列数据和系统文献综述进行了探索NR2E3变异谱和潜在的基因型-表型相关性;(3)结果:NR2E3中9个致病变异/可能的致病变异,包括5个新变异,在八个家庭中检测到(四个分别有ADRP和ARRP)。随访数据显示黄斑裂开/萎缩和血管拱廊周围的视网膜变性，ADRP和ARRP存在差异。系统性文献综述表明，ADRP患者的视力（p<0.01）和发病年龄（p<0.0001）优于ARRP患者；（4）结论：黄斑裂开和血管拱廊周围的视网膜变性可能是NR2E3视网膜病变的预后，支配,或隐性。我们的数据可能进一步丰富我们对NR2E3变体和相关遗传性视网膜病变的理解。
