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微脉冲经巩膜睫状体光凝术治疗常染色体隐性遗传性Bestrophin病合并闭角型青光眼:一例报告

Micropulse transscleral cyclophotocoagulation in the treatment of autosomal recessive bestrophinopathy combined with angle closure glaucoma: a case report.

作者信息

Liu Jinkun, Xue Yingying, Huang Weiyi, Wang Yuhong

机构信息

Xiamen Eye Center and Eye Institute of Xiamen University, School of Medicine, Xiamen Clinical Research Center for Eye Diseases, Xiamen Key Laboratory of Ophthalmology, Fujian Key Laboratory of Corneal and Ocular Surface Diseases, Xiamen Key Laboratory of Corneal and Ocular Surface Diseases, Translational Medicine Institute of Xiamen Eye Center of Xiamen University, Xiamen, Fujian, China.

出版信息

Front Med (Lausanne). 2025 Aug 8;12:1567964. doi: 10.3389/fmed.2025.1567964. eCollection 2025.

DOI:10.3389/fmed.2025.1567964
PMID:40861203
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12370765/
Abstract

BACKGROUND

Autosomal recessive bestrophinopathy (ARB) comprises remarkable retinal dystrophy characterized by yellowish subretinal lesions scattered in the posterior pole and is always accompanied with refractory angle-closure glaucoma (ACG). The treatment of ACG patients with ARB is a major challenge for all ophthalmologists.

CASE PRESENTATION

A 12-year-old female child was diagnosed with ARB and ACG and presented with discrete, round, yellow-white deposits of variable sizes scattered in the retina, retinoschisis in the macular, shallow anterior chamber depth and angle closure with uncontrolled intraocular pressure (IOP). Micropulse transscleral cyclophotocoagulation (MP-TCP) successfully deepened anterior chamber, lowered IOP and resolved retinoschisis. However, the postoperative deepening of the anterior chamber began to regress 12 days after surgery and stabilized 142 days after surgery, the retinoschisis reoccurred 67 days after surgery.

CONCLUSION

This case revealed that changes in vitreous condition may play an important role in the formation of retinoschisis. MP-TCP, which induces vitreous compression and increases osmotic pressure on the retina, could be used to treat young ACG patients with ARB to avoid other complicated surgeries and vision-threatening postoperative complications. However, the theory needs to be confirmed by further studies.

摘要

背景

常染色体隐性遗传性Bestrophin病(ARB)是一种显著的视网膜营养不良,其特征为散在分布于后极部的淡黄色视网膜下病变,且常伴有难治性闭角型青光眼(ACG)。对于ARB合并ACG患者的治疗,是所有眼科医生面临的一项重大挑战。

病例报告

一名12岁女童被诊断为ARB和ACG,表现为视网膜上散在分布着大小不一的离散、圆形、黄白色沉积物,黄斑区视网膜劈裂,前房深度浅,房角关闭且眼压失控。微脉冲经巩膜睫状体光凝术(MP-TCP)成功加深了前房,降低了眼压,并解决了视网膜劈裂问题。然而,术后前房加深在术后12天开始消退,术后142天稳定下来,视网膜劈裂在术后67天复发。

结论

该病例表明,玻璃体状态的改变可能在视网膜劈裂的形成中起重要作用。MP-TCP可诱导玻璃体压缩并增加视网膜上的渗透压,可用于治疗患有ARB的年轻ACG患者,以避免其他复杂手术和术后威胁视力的并发症。然而,该理论需要进一步研究加以证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/eb03da233225/fmed-12-1567964-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/00d1f99caf0e/fmed-12-1567964-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/1a4cb1ef6cc1/fmed-12-1567964-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/fadccd2aac04/fmed-12-1567964-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/eb03da233225/fmed-12-1567964-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/00d1f99caf0e/fmed-12-1567964-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/1a4cb1ef6cc1/fmed-12-1567964-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/fadccd2aac04/fmed-12-1567964-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1725/12370765/eb03da233225/fmed-12-1567964-g004.jpg

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本文引用的文献

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J Glaucoma. 2025 Aug 1;34(8):575-584. doi: 10.1097/IJG.0000000000002583. Epub 2025 Apr 29.
2
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.全面的遗传分析揭示了常染色体隐性眼病伴 BEST1 基因突变的中国家系中的遗传缺失和一个致病变异。
Invest Ophthalmol Vis Sci. 2023 Sep 1;64(12):37. doi: 10.1167/iovs.64.12.37.
3
Angle-closure glaucoma associated with autosomal recessive bestrophinopathy.
与常染色体隐性遗传性最佳rophin病相关的闭角型青光眼。
Indian J Ophthalmol. 2022 Jul;70(7):2657-2658. doi: 10.4103/ijo.IJO_2411_21.
4
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.常染色体隐性遗传 Bestrophinopathy 和 Best 型卵黄样黄斑营养不良的表型和遗传谱。
Invest Ophthalmol Vis Sci. 2021 May 3;62(6):22. doi: 10.1167/iovs.62.6.22.
5
Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report.玻璃体在常染色体隐性遗传性Bestrophin病性闭角型青光眼中的致病作用:一例报告
BMC Ophthalmol. 2020 Jul 9;20(1):271. doi: 10.1186/s12886-020-01543-5.
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Micropulsed diode laser cyclophotocoagulation in recurrent pediatric glaucoma.微脉冲二极管激光睫状体光凝术治疗儿童复发性青光眼
Eur J Ophthalmol. 2020 Sep;30(5):1149-1155. doi: 10.1177/1120672119858226. Epub 2019 Jul 1.
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