目的：分析中国宁夏地区常染色体隐性遗传视网膜色素变性(ARRP)及视锥-视杆细胞营养不良(CORD)的基因突变频谱。

方法：纳入2016-09/2020-02在宁夏人民医院眼科医院就诊的35例ARRP患者和18例常染色体隐性CORD患者，行详细的眼科检查。抽取外周静脉血，对先证者应用包含232个致病基因的遗传性视网膜疾病捕获芯片进行靶向捕获富集高通量测序。利用在线分析软件对可疑基因变异致病性进行预测，利用Sanger测序对家系成员进行共分离分析。

结果：ARRP患者35例中，检测到致病基因16个，以RP1基因突变率最高，占14%(5/35)，其次为ABCA4、CRB1和EYS基因，均占11%(4/35)； 18例常染色体隐性CORD患者中，检测到致病基因10个，以ABCA4基因突变率最高，占28%(5/18)，其次为ALMS1、PROM1、RPE65、USH2A基因，均占11%(2/18)； ARRP和CORD患者中，共同致病基因有ABCA4、CLN3、CRB1、PROM1、NRL共5个，占42%(22/53)。

结论：ARRP及CORD两种疾病在表型之间具有一定程度的相似性和交叉性，致病基因突变谱上存在一定重叠性。宁夏地区最常见的重叠基因为ABCA4。

METHODS:Totally 35 ARRP pedigrees and 18 CORD pedigrees were included in Ningxia Eye Hospital from September 2016 to February 2020. Peripheral venous blood samples of the proband were collected for targeted capture enrichment and high-throughput sequencing using a genetic retinal disease capture chip that contain 232 pathogenic genes. Online analysis software was used to predict the pathogenicity of suspicious gene variation, and Sanger sequencing was used to analyze the co-segregation of the family members.

RESULTS: Totally 16 pathogenic genes were confirmed in 35 ARRP pedigrees, the mutations rate of RP1 gene was the highest, accounting for 14%(5/35), following were ABCA4, CRB1 and EYS gene, accounted for 11%(4/35); 18 CORD pedigrees carried 10 pathogenic genes. The mutation rate of ABCA4 gene was the highest, accounting for 28%(5/18), followed by ALMS1, PROM1, RPE65, USH2A gene, accounting for 11%(2/18). There were 5 co-exist disease-causing genes in ARRP and CORD pedigrees, which were ABCA4, CLN3, CRB1, PROM1, NRL, accounting for 42%(22/53).

CONCLUSION: There are similarities and crossover in the phenotype of ARRP and CORD. The pathogenic genes were overlaped. The most common overlaping gene between the two diseases is ABCA4.