目的：鉴定一个江苏省南通市原发性开角型青光眼(POAG)家系的青光眼致病基因，分析该基因的临床表型和致病机制。

方法：于2020-01/12回顾并招募了一个POAG家系，该家系跨越5代共33名，有13名家庭成员参与了研究，其中4名诊断为POAG，1名诊断为高眼压症，剩余8名未受影响。详细询问病史并进行全面的眼科检查，采用高通量测序筛选可能的致病基因，Sanger测序验证候选致病基因。

结果：该家系患者均在青年时期发现眼压升高并诊断为青光眼，需手术治疗控制眼压，先证者最高眼压(IOP)达55mmHg。全外显子测序在先证者LTBP2基因上发现了一个杂合突变(c.1197C>A， p.Phe399Leu)，Sanger测序验证该突变位点与家系疾病并不分离。

结论：LTBP2(c.1197C>A)突变不是该家系POAG的致病基因。但是LTBP2突变在POAG病例中的致病作用值得研究。

METHOD: A POAG pedigree was reviewed and recruited from January 2020 to December 2020, which spans 5 generations, with 33 people in total. A total of 13 family members were enrolled in our study, of whom 4 members were diagnosed with POAG, 1 with ocular hypertension(OHT), and the other 8 members were unaffected. Detailed medical history was collected and a comprehensive ophthalmic examination was performed. High throughput sequencing was used to screen for possible pathogenic gene, and Sanger sequencing was used to verify candidate pathogenic gene.

RESULT: All patients in this family were found to have elevated intraocular pressure(IOP)and diagnosed with glaucoma at a young age, requiring surgical treatments to control the IOP. The highest IOP of proband was up to 55mmHg. A heterozygous mutation(c.1197C>A, p.Phe399Leu)of LTBP2 gene was found in the proband genome by whole exon sequencing(WES). Sanger sequencing verified that the mutation was not isolated from the family disease.

CONCLUSION: LTBP2 (c.1197C>A)mutation was not the pathogenic gene of POAG in this family. However, the pathogenic potential of LTBP2 gene in POAG cases is worth studying.