Knobloch 综合征患者视网膜脱离的手术治疗效果。

Surgical Outcomes of Retinal Detachment in Knobloch Syndrome.

机构信息

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Al-faisal University, Riyadh, Saudi Arabia.

出版信息

Ophthalmol Retina. 2024 Sep;8(9):898-904. doi: 10.1016/j.oret.2024.03.020. Epub 2024 Mar 30.

DOI:10.1016/j.oret.2024.03.020

PMID:38556002

Abstract

PURPOSE

To describe the rate, characteristics, and outcomes of rhegmatogenous retinal detachment (RD) in patients with Knobloch syndrome.

DESIGN

A single-center retrospective cohort study.

PARTICIPANTS

Fifty patients with Knobloch syndrome diagnosed clinically, with or without molecular confirmation of recessive pathogenic COL18A1 variants.

METHODS

A retrospective chart review of all patients diagnosed with Knobloch syndrome from November 1, 1983 to March 31, 2023. Demographic data, ophthalmic evaluation at baseline and follow-up, interventions, and final anatomic and visual outcomes were collected.

MAIN OUTCOME MEASURES

Rate, time of onset, characteristics, and treatment outcomes of RD.

RESULTS

Fifty patients with Knobloch syndrome were included. Males constituted 56% of cases. The diagnosis was confirmed with molecular genetic testing in 37 (74%) patients. Twenty-two patients (44%) had documented occipital bony defects or scalp lesions. Forty-eight of 100 eyes (48%) developed RD at a mean (standard deviation [SD]) age of 6.5 (6.1) years. The mean (SD) follow-up was 7.7 (5.6) years (range, 6 months to 24.3 years). Macular hole-related RD comprised 33% of RD cases. The overall single-surgery success rate was 36% and the final anatomic success rate was 70%. Macular hole-related RD carried a slightly worse prognosis with a 58% final anatomic success rate. Vitrectomy with adjunct scleral buckle and silicone oil tamponade provided the highest single-surgery success (62.2%). In eyes with measurable best-corrected visual acuity (BCVA), the mean preoperative BCVA was 1.2 logarithm of the minimum angle of resolution (Snellen equivalent, 20/320). After successful repair, mean visual acuity was 1.3 logarithm of the minimum angle of resolution (Snellen equivalent, 20/500).

CONCLUSIONS

Retinal detachment in Knobloch syndrome is frequent and occurs in young children. Macular hole-related RD comprises one third of RD cases and requires careful macular evaluation. Vitrectomy, combined with scleral buckling and silicone oil tamponade, appears to provide the best anatomic outcomes.

FINANCIAL DISCLOSURES

The authors have no proprietary or commercial interest in any materials discussed in this article.

摘要

目的

描述 Knobloch 综合征患者中孔源性视网膜脱离（RD）的发生率、特征和结局。

设计

单中心回顾性队列研究。

参与者

50 例临床诊断为 Knobloch 综合征的患者，有或无隐性致病 COL18A1 变异的分子确认。

方法

对 1983 年 11 月 1 日至 2023 年 3 月 31 日期间临床诊断为 Knobloch 综合征的所有患者进行回顾性图表审查。收集人口统计学数据、基线和随访时的眼科评估、干预措施以及最终的解剖和视力结局。

主要观察指标

RD 的发生率、发病时间、特征和治疗结局。

结果

共纳入 50 例 Knobloch 综合征患者，男性占 56%。37 例（74%）患者通过分子遗传学检测确诊。22 例（44%）患者有记录的枕骨骨缺损或头皮病变。48 只眼（48%）在平均（标准差[SD]）6.5（6.1）岁时发生 RD。平均（SD）随访时间为 7.7（5.6）年（范围 6 个月至 24.3 年）。黄斑裂孔相关 RD 占 RD 病例的 33%。单次手术成功率为 36%，最终解剖成功率为 70%。黄斑裂孔相关 RD 的预后略差，最终解剖成功率为 58%。玻璃体切割联合巩膜扣带和硅油填充术的单次手术成功率最高（62.2%）。在有可测量最佳矫正视力（BCVA）的眼中，术前平均 BCVA 为 1.2 对数最小角分辨率（Snellen 等效值，20/320）。成功修复后，平均视力为 1.3 对数最小角分辨率（Snellen 等效值，20/500）。