Abstract：
OBJECTIVE: Choroidal neovascularisation (CNV) in patients with X-linked retinoschisis (XLRS) has been poorly documented. This study aims to investigate the prevalence and clinical characteristics of CNV in patients with XLRS, as well as analyse the preliminary genotype-phenotype correlation.
METHODS: A retrospective case series of patients with genetically confirmed XLRS was included. Demographic, clinical and genetic features were analysed, with a comparison between CNV and non-CNV eyes.
RESULTS: Among 185 eyes of 129 patients with XLRS, the prevalence of CNV was 8.1% (15/185). The mean diagnostic age of all patients with CNV is 5.1±2.56 years. CNV eyes exhibited a mean best-corrected visual acuity (BCVA) (logarithm of the minimal angle of resolution) of 1.37±0.74. All CNVs were classified as subretinal and active. Peripapillary CNVs accounted for 80.0% (12/15), while subfoveal CNVs accounted for 20.0% (3/15). In CNV eyes, the prevalence of macular atrophy (5/15, 33.3%, p=0.013) and bullous peripheral schisis (14/15, 93.3%, p=0.000) was higher compared with non-CNV eyes. Additionally, CNV eyes exhibited poorer integrity of the outer retina and BCVA (p=0.007) compared with non-CNV eyes. All 15 eyes with CNV underwent anti-vascular endothelial growth factor (anti-VEGF) therapy. Genotype analysis revealed that 7 of 10 patients (70.0%, 10 eyes) were predicted to have missense variants, while 3 of 10 patients (30.0%, 5 eyes) exhibited severe variants.
CONCLUSIONS: The prevalence of CNV in XLRS eyes was found to be 8.1%. All CNVs secondary to XLRS were active and classified as type 2. CNV eyes demonstrated poorer visual function and compromised retinal structures. Anti-VEGF therapy demonstrated effectiveness in treating XLRS-CNVs. No significant genotype-phenotype correlation was established.
METHODS: A retrospective case series of patients with genetically confirmed XLRS was included. Demographic, clinical and genetic features were analysed, with a comparison between CNV and non-CNV eyes.
RESULTS: Among 185 eyes of 129 patients with XLRS, the prevalence of CNV was 8.1% (15/185). The mean diagnostic age of all patients with CNV is 5.1±2.56 years. CNV eyes exhibited a mean best-corrected visual acuity (BCVA) (logarithm of the minimal angle of resolution) of 1.37±0.74. All CNVs were classified as subretinal and active. Peripapillary CNVs accounted for 80.0% (12/15), while subfoveal CNVs accounted for 20.0% (3/15). In CNV eyes, the prevalence of macular atrophy (5/15, 33.3%, p=0.013) and bullous peripheral schisis (14/15, 93.3%, p=0.000) was higher compared with non-CNV eyes. Additionally, CNV eyes exhibited poorer integrity of the outer retina and BCVA (p=0.007) compared with non-CNV eyes. All 15 eyes with CNV underwent anti-vascular endothelial growth factor (anti-VEGF) therapy. Genotype analysis revealed that 7 of 10 patients (70.0%, 10 eyes) were predicted to have missense variants, while 3 of 10 patients (30.0%, 5 eyes) exhibited severe variants.
CONCLUSIONS: The prevalence of CNV in XLRS eyes was found to be 8.1%. All CNVs secondary to XLRS were active and classified as type 2. CNV eyes demonstrated poorer visual function and compromised retinal structures. Anti-VEGF therapy demonstrated effectiveness in treating XLRS-CNVs. No significant genotype-phenotype correlation was established.
摘要：
目的：脉络膜新生血管（CNV）在X-连锁视网膜劈裂（XLRS）患者中的记录很少。本研究旨在探讨XLRS患者中CNV的患病率及临床特点。以及分析初步的基因型-表型相关性。
方法：纳入基因证实的XLRS患者的回顾性病例系列。人口统计,分析了临床和遗传特征，与CNV和非CNV眼睛之间的比较。
结果：在129例XLRS患者的185只眼中，CNV的患病率为8.1%(15/185).所有CNV患者的平均诊断年龄为5.1±2.56岁。CNV眼睛的平均最佳矫正视力（BCVA）（最小分辨率角度的对数）为1.37±0.74。将所有CNV分类为视网膜下和活性的。乳头周围CNVs占80.0%(12/15),而中央凹下CNVs占20.0%(3/15)。在CNV眼中,黄斑萎缩的患病率(5/15，33.3%，p=0.013)和大疱性外周分裂(14/15，93.3%，p=0.000）与非CNV眼相比更高。此外,与非CNV眼相比,CNV眼表现出较差的外视网膜和BCVA的完整性(p=0.007)。所有15只患有CNV的眼睛均接受了抗血管内皮生长因子（抗VEGF）治疗。基因型分析显示，10例患者中有7例（70.0%，10只眼睛)被预测有错觉变体，而10例患者中有3例（30.0%，5只眼）表现出严重的变异。
结论：发现XLRS眼中CNV的患病率为8.1％。XLRS继发的所有CNV均具有活性，并分类为2型。CNV眼表现出较差的视觉功能和受损的视网膜结构。抗VEGF治疗证明在治疗XLRS-CNV中有效。没有建立显著的基因型-表型相关性。
方法：纳入基因证实的XLRS患者的回顾性病例系列。人口统计,分析了临床和遗传特征，与CNV和非CNV眼睛之间的比较。
结果：在129例XLRS患者的185只眼中，CNV的患病率为8.1%(15/185).所有CNV患者的平均诊断年龄为5.1±2.56岁。CNV眼睛的平均最佳矫正视力（BCVA）（最小分辨率角度的对数）为1.37±0.74。将所有CNV分类为视网膜下和活性的。乳头周围CNVs占80.0%(12/15),而中央凹下CNVs占20.0%(3/15)。在CNV眼中,黄斑萎缩的患病率(5/15，33.3%，p=0.013)和大疱性外周分裂(14/15，93.3%，p=0.000）与非CNV眼相比更高。此外,与非CNV眼相比,CNV眼表现出较差的外视网膜和BCVA的完整性(p=0.007)。所有15只患有CNV的眼睛均接受了抗血管内皮生长因子（抗VEGF）治疗。基因型分析显示，10例患者中有7例（70.0%，10只眼睛)被预测有错觉变体，而10例患者中有3例（30.0%，5只眼）表现出严重的变异。
结论：发现XLRS眼中CNV的患病率为8.1％。XLRS继发的所有CNV均具有活性，并分类为2型。CNV眼表现出较差的视觉功能和受损的视网膜结构。抗VEGF治疗证明在治疗XLRS-CNV中有效。没有建立显著的基因型-表型相关性。
