一例携带新型新发COL4A5变异的X连锁Alport综合征女性患者中的巨大黄斑裂孔
Giant macular hole in a female patient with X-linked Alport syndrome harboring a novel de novo COL4A5 variant.
文献信息
| PMID | 42905207 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Natsuki Higa |
| 作者单位 | Department of Ophthalmology, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461, Japan. |
| 期刊 | Documenta ophthalmologica. Advances in ophthalmology |
| SCI 分区 | Q3 |
| IF | 2.4 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 耳科 |
中文摘要
目的： 报告一例经基因确诊的X连锁Alport综合征（AS）女性患者，表现为进行性视网膜变薄及巨大黄斑裂孔形成。
方法： 一名28岁女性，有双眼LASIK手术史，因双眼进行性黄斑病变转诊评估。进行了全面的眼科检查，包括光学相干断层扫描（OCT）以及全视野和多焦视网膜电图（ERG）。对COL4A3、COL4A4和COL4A5基因进行了靶向下一代测序。
结果： 就诊时，最佳矫正视力（BCVA）小数视力右眼（OD）为0.7，左眼（OS）为1.2。患者无听力损失，也无肾脏或眼部疾病家族史。OCT显示双眼视网膜变薄。随访期间观察到所有视网膜层进行性变薄，左眼出现黄斑裂孔，从34岁时546 µm逐渐扩大至39岁时最小直径1684 µm的巨大黄斑裂孔。37岁时，全视野ERG显示视杆系统功能保留，伴轻度视锥系统功能障碍，多焦ERG显示双眼黄斑反应显著降低。基因检测发现一种新型新发杂合COL4A5变异（p.Gly775Val），分类为致病性，证实为X连锁AS。
结论： X连锁AS即使在无听力损失或家族史的女性患者中，也可能表现为进行性弥漫性黄斑变薄和巨大黄斑裂孔形成。对于女性不明原因的双眼黄斑变薄和巨大黄斑裂孔，应将AS纳入鉴别诊断。
英文摘要
PURPOSE: To report a female patient with genetically confirmed X-linked Alport syndrome (AS) presenting with progressive retinal thinning and giant macular hole formation.
METHODS: A 28-year-old woman with a history of bilateral LASIK surgery was referred for evaluation of bilateral progressive maculopathy. Comprehensive ophthalmic examinations, including optical coherence tomography (OCT) and full-field and multifocal electroretinography (ERG), were performed. Targeted next-generation sequencing of COL4A3, COL4A4, and COL4A5 genes was performed.
RESULTS: At presentation, decimal best-corrected visual acuity (BCVA) was 0.7 in the right eye (OD) and 1.2 in the left eye (OS). The patient had no hearing loss or family history of renal or ocular disease. OCT revealed bilateral retinal thinning. During follow-up, progressive thinning of all retinal layers was observed, and a macular hole developed in OS, gradually enlarging from 546 µm at age 34 to a giant macular hole measuring 1684 µm in minimum diameter at age 39. At 37 years of age, full-field ERG demonstrated preserved rod system function with mild cone system dysfunction, and multifocal ERG showed significantly reduced macular responses bilaterally. Genetic testing identified a novel de novo heterozygous COL4A5 variant (p.Gly775Val), classified as pathogenic, confirming X-linked AS.
CONCLUSIONS: X-linked AS may present with progressive diffuse macular thinning and giant macular hole formation even in female patients without hearing loss or a family history. AS should be considered in the differential diagnosis of unexplained bilateral macular thinning and giant macular hole in women.