PDF(Pubmed)
Abstract：
To our knowledge, this case report describes the first instance of reversal of glaucomatous optic nerve cupping in a young adult with a rare form of juvenile open-angle glaucoma (JOAG) associated with a novel variant of the myocilin gene (MYOC). This 25-year-old woman with severe-stage MYOC-associated JOAG presented with blurry vision and intermittent pain in her left eye. She had a strong family history of glaucoma in multiple first-degree relatives with an identified novel variant of MYOC. Examination revealed intraocular pressures (IOPs) of 10 mmHg OD and 46 mmHg OS, with cup-to-disc ratios of 0.90 and 0.80. The patient experienced substantial reversal of optic disc cupping OS following dramatic IOP reduction with trabeculectomy, and subsequently experienced a return of cupping after an IOP spike 15 months postoperatively. The reversal of cupping did not correspond to any changes in the patient\'s visual field. After an initial decrease in retinal nerve fiber layer (RNFL) thickness, RNFL remained stable for over 2 years after trabeculectomy as seen on Optical Coherence Tomography (OCT). This case suggests reversal of cupping can occur well into adulthood in a MYOC-associated JOAG patient, and it demonstrates the potential bidirectionality of this phenomenon. Moreover, it suggests that these structural changes may not correspond to any functional changes in visual fields or RNFL thickness.
摘要：
据我们所知,本病例报告描述了一例年轻成人青光眼视神经拔罐逆转的首例病例,该成人患有一种罕见的青少年开角型青光眼(JOAG),并伴有一种新的肌膜蛋白基因变异体(MYOC).这位25岁的女性患有严重的MYOC相关的JOAG，视力模糊，左眼间歇性疼痛。她在多个一级亲属中有很强的青光眼家族史，并发现了MYOC的新变体。检查显示眼压（IOP）为10mmHgOD和46mmHgOS，杯盘比0.90和0.80。患者经小梁切除术后IOP显著降低，视盘拔罐OS出现明显逆转，并随后在术后15个月出现IOP峰值后恢复拔罐。拔罐的逆转与患者视野的任何变化都不一致。在视网膜神经纤维层（RNFL）厚度最初减少后，如光学相干断层扫描（OCT）所示，小梁切除术后RNFL保持稳定超过2年。这种情况表明，在与MYOC相关的JOAG患者中，拔罐的逆转可能会发生到成年期，它证明了这种现象的潜在双向性。此外，这表明这些结构变化可能不对应于视野或RNFL厚度的任何功能变化。
