Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. Several CHM gene replacement clinical trials are in advanced stages. In this study, we report the molecular confirmation of choroideremia in 14 Australian families sourced from the Australian Inherited Retinal Disease Registry and DNA Bank. Sixteen males (14 symptomatic) and 18 females (4 symptomatic; 14 obligate carriers) were identified for analysis. Participants’ DNA was analyzed for disease-causing CHM variants by Sanger sequencing, TaqMan qPCR and targeted NGS. We report phenotypic and genotypic data for the 14 symptomatic males and four females manifesting disease symptoms. A pathogenic or likely pathogenic CHM variant was detected in all families. Eight variants were previously reported, and five were novel. Two de novo variants were identified. We previously reported the molecular confirmation of choroideremia in 11 Australian families. This study expands the CHM genetically confirmed Australian cohort to 32 males and four affected carrier females.

无脉络膜血症是一种由CHM基因突变引起的 X 连锁脉络膜视网膜营养不良。多项CHM基因替代临床试验正处于后期阶段。在这项研究中，我们报告了来自澳大利亚遗传性视网膜疾病登记处和 DNA 库的 14 个澳大利亚家庭的无脉络膜血症的分子确认。确定了 16 名男性（14 名有症状）和 18 名女性（4 名有症状；14 名必然携带者）进行分析。通过桑格测序、TaqMan qPCR 和靶向 NGS 分析参与者的 DNA 中是否存在致病的CHM变异。我们报告了 14 名有症状的男性和 4 名表现出疾病症状的女性的表型和基因型数据。在所有家族中均检测到致病性或可能致病性CHM变异。之前报道过八种变体，其中五种是新颖的。鉴定出两种从头变异。我们之前报道过 11 个澳大利亚家庭患有无脉络膜血症的分子证实。这项研究将CHM基因确认的澳大利亚队列扩大到 32 名男性和 4 名受影响的女性携带者。