目的:描述比率,特点,Knobloch综合征患者的孔源性视网膜脱离(RD)的结果。
方法:单中心回顾性队列研究。
方法:50例临床诊断为有或没有隐性致病性COL18A1变异分子确认的Knobloch综合征患者。
方法:从11月1日起对所有诊断为Knobloch综合征的患者进行回顾性图表回顾,1983年3月31日,2023年。人口统计数据,基线和随访时的眼科评估,干预措施,并收集最终的解剖和视觉结果。
方法:费率,发病时间,特点,和RD的治疗结果。
结果:纳入50例Knobloch综合征患者。男性占病例的56%。37例(74%)患者的分子遗传学检测证实了诊断。22例患者(44%)有枕骨骨缺损或头皮病变。100只眼睛中有48只(48%)在平均年龄6.5(SD=6.1)岁时发展为RD。平均随访时间为7.7年(SD=5.6年)[范围6个月-24.3年]。黄斑裂孔相关性RD占RD病例的33%。整体单次手术成功率为36%,最终解剖成功率为70%。黄斑裂孔相关RD的预后稍差,最终解剖成功率为58%。附加巩膜扣和硅油填塞的玻璃体切除术提供了最高的单次手术成功率(62.2%)。在具有可测量的最佳矫正视力(BCVA)的眼睛中,术前平均BCVA为1.2logMAR(相当于Snellen20/320).修复成功后,平均VA为1.3logMAR(Snellen当量20/500)。
结论:Knobloch综合征的视网膜脱离是常见的,发生在幼儿中。黄斑孔视网膜脱离占RD病例的三分之一,需要仔细评估黄斑。玻璃体切除术,结合巩膜扣带和硅油填塞似乎提供了最好的解剖结果。
OBJECTIVE: To describe the rate, characteristics, and outcomes of rhegmatogenous retinal detachment (RD) in patients with Knobloch syndrome.
METHODS: A single-center retrospective cohort study.
METHODS: 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.
METHODS: 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.
BACKGROUND: The authors have no proprietary or commercial interest in any materials discussed in this article.