Primary angle-closure glaucoma (PACG) and retinitis pigmentosa (RP) can co-occur, but the mechanism of their association is not yet established. The purpose of this study was to investigate the differences in ocular biometry parameters and molecular genetics in patients with PACG with or without RP, and to determine the association between PACG and RP. Patients with early-onset PACG (age of onset <45 years) with or without RP were selected from the glaucoma outpatient department after full ocular examinations by the same glaucoma specialist (LX). Ocular biometry parameters were statistically analyzed. Blood samples were collected from the probands, and genomic DNA was sent out for whole exome sequencing. Variants in 326 selected genes, were extracted from the whole exome sequencing data and filtered using multiple bioinformatics analysis. The 326 genes included 10 PACG-associated genes from two genome wide association studies; 45 genes associated with anterior segment dysgenesis, microcornea, and microphthalmia; and 271 RetNet genes. Potential pathogenic variants (PPV) were obtained and underwent further genotype–phenotype analysis. As a result, a total of 32 probands with early-onset PACG were collected; nine had accompanying RP. No significant differences were noted for ocular biometry parameters between patients with PACG with RP and with PACG alone. Systematic analysis of the variants revealed that 16 of 32 probands (50%) carried PPV in 15 of 326 genes, including 14 RetNet genes and one anterior segment dysgenesis-associated gene. Of these 16 probands with PPV, five (55.56%) were from the group of nine probands with both had PACG and RP and 11 (47.83%) were from the group of 23 probands with PACG alone. Of the 15 genes, five genes, CRB1, COL2A1, RHO, RP1L1, and PAX6, were reported to cause phenotypes including glaucoma. The variants in RetNet genes appeared to be associated with a significant proportion of PACG, especially in probands with both PACG and RP. These findings enrich the phenotype spectrum of RetNet genes and provide clues for genetic screening for glaucoma. Our study suggests a genetic association between PACG and RP, although the cause-effect relationship between them needs further validation.

原发性闭角型青光眼（PACG）和色素性视网膜炎（RP）可以同时发生，但它们的关联机制尚未建立。这项研究的目的是调查有或没有RP的PACG患者的眼部生物学参数和分子遗传学差异，并确定PACG和RP之间的关联。由青光眼专科医师（LX）进行全眼检查后，从青光眼门诊部中选择患有或不伴有RP的早发PACG（发病年龄<45岁）的患者。对眼生物统计参数进行统计分析。从先证者那里采集血样，并发送基因组DNA进行全外显子组测序。从整个外显子组测序数据中提取了326个选定基因的变体，并使用多种生物信息学分析进行了过滤。326个基因包括来自两项全基因组关联研究的10个与PACG相关的基因。与前节发育不全，微角膜和小眼症相关的45个基因；和271个RetNet基因。获得了潜在的致病变异体（PPV），并进行了进一步的基因型-表型分析。结果，共收集了32例早发PACG的先证者。九人有随行RP。在RP的PACG患者和单独的PACG患者之间，眼部生物学参数没有显着差异。对变异体的系统分析显示，32个先证者中有16个（50％）在326个基因中的15个中携带PPV，其中包括14个RetNet基因和一个与前节发育不良相关的基因。在这16个PPV的先证者中，有五个（55.56％）来自具有PACG和RP的9个先证者，以及11个（47。83％的患者来自仅使用PACG的23个先证者。在15个基因中，有5个基因，据报道，CRB1，COL2A1，RHO，RP1L1和PAX6会引起包括青光眼在内的表型。RetNet基因的变体似乎与很大一部分的PACG有关，尤其是在同时具有PACG和RP的先证者中。这些发现丰富了RetNet基因的表型谱，为青光眼的遗传筛查提供了线索。我们的研究表明，PACG和RP之间存在遗传关联，尽管它们之间的因果关系需要进一步验证。