I型与II型儿童Stickler综合征的表型差异
Differential Phenotypes in Type I and Type II Pediatric Stickler Syndrome.
文献信息
| PMID | 42954732 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Chuqi Xiang |
| 作者单位 | State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Vision Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, China. |
| 期刊 | Investigative ophthalmology & visual science |
| SCI 分区 | Q1 |
| IF | 5.5 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 耳科 |
中文摘要
目的： 比较携带COL2A1和COL11A1致病性变异的儿童Stickler综合征患者的眼部及眼外表型。
方法： 本双向性队列研究纳入2012年9月至2025年6月于中山眼科中心连续就诊、经基因确诊为1型（COL2A1）和2型（COL11A1）Stickler综合征的中国儿童患者。整合历史临床记录与前瞻性随访数据，分析表型分布及危险因素。
结果： 研究纳入来自90个无亲缘关系家系的94例儿童先证者（COL2A1组n=64，男性53.1%；COL11A1组n=30，男性46.7%）。COL2A1组和COL11A1组末次随访的中位年龄分别为6.40岁（范围2.03-14.38岁）和5.95岁（范围3.22-13.56岁）。携带COL2A1变异的患者角膜曲率显著更平坦，平轴为41.83±0.16屈光度（D）对42.92±0.30 D（P=0.002），陡轴为43.39±0.17 D对45.00±0.35 D（P=0.001）。此外，COL2A1组周边视网膜病变的患病率显著更高，包括无压迫白/无压迫暗（51.8%对28.6%，P=0.031）、放射状血管周围视网膜变性（61.6%对0%，P<0.001）及周边玻璃体视网膜异常（57.1%对24.5%，P=0.002）。黄斑中心凹发育不良严重程度的分布亦存在显著差异（P=0.020），COL2A1组以I级为主（37.1%），而COL11A1组观察到更多晚期病例。
结论： 与携带COL11A1变异的儿童相比，COL2A1相关Stickler综合征儿童患者角膜曲率显著更平坦，周边视网膜病变负担更重。这些发现强调了对该人群进行基因型特异性临床监测和早期眼底筛查的必要性。
英文摘要
PURPOSE: To compare the ocular and extraocular phenotypes of pediatric patients with Stickler syndrome harboring pathogenic variants in COL2A1 and COL11A1.
METHODS: This ambispective cohort study included continuous Chinese pediatric patients with genetically confirmed type 1 (COL2A1) and type 2 (COL11A1) Stickler syndrome evaluated between September 2012 and June 2025 at the Zhongshan Ophthalmic Center. Historical clinical records and prospective follow-up data were integrated to analyze phenotypic distributions and risk factors.
RESULTS: The study included 94 pediatric probands from 90 unrelated families (COL2A1, n = 64, 53.1% male; COL11A1, n = 30, 46.7% male). The median age at the final visit was 6.40 years (range, 2.03-14.38 years) and 5.95 years (range, 3.22-13.56 years) for the COL2A1 and COL11A1 groups, respectively. Patients with the COL2A1 variants exhibited significantly flatter corneal curvatures in both flat (41.83 ± 0.16 diopters [D] vs. 42.92 ± 0.30 D; P = 0.002) and steep meridians (43.39 ± 0.17 D vs. 45.00 ± 0.35 D; P = 0.001). Furthermore, the COL2A1 group showed a significantly higher prevalence of peripheral retinal lesions, including white without pressure/dark without pressure (51.8% vs. 28.6%, P = 0.031), radial perivascular retinal degeneration (61.6% vs. 0%; P < 0.001), and peripheral vitreoretinal abnormalities (57.1% vs. 24.5%; P = 0.002). The distribution of foveal hypoplasia severity also differed significantly (P = 0.020), with grade I predominating in the COL2A1 group (37.1%) and more advanced cases observed in the COL11A1 group.
CONCLUSIONS: Pediatric patients with COL2A1-related Stickler syndrome demonstrate significantly flatter corneal curvatures and a greater burden of peripheral retinal lesions compared with those with COL11A1 variants. These findings emphasize the need for genotype-specific clinical monitoring and early fundus screening in this population.