Qingdao Eye Hospital of Shandong First Medical University, Qingdao, China.
State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Sciences, Qingdao, China.
Medicine (Baltimore). 2023 Nov 24;102(47):e36090. doi: 10.1097/MD.0000000000036090.
Congenital eye diseases have a significant impact on children and young adults. Retinal detachment associated with Kniest dysplasia represents the most severe ocular complication, which is challenging to diagnose and treat effectively. Genetic testing has emerged as an invaluable tool for diagnosing hereditary diseases.
A 23-year-old male presented to our Ophthalmology Clinic with retinal detachment involving dialysis of the ora serrata in his left eye. High-throughput exon sequencing enabled a definitive diagnosis of Kniest dysplasia resulting from a mutation in the COL2A1 gene. The patient subsequently underwent pars plana vitrectomy with silicone oil injection to reattach the retina. This surgical intervention successfully reattached the retina and restored vision to 20/25 in the affected eye.
Retinal detachment represents the most serious ocular complication associated with Kniest dysplasia. To prevent permanent blindness, early diagnosis through genetic testing and regular ophthalmological examinations are imperative. Advances in genetic screening have improved the management of retinal detachment risk in Kniest dysplasia patients.
先天性眼病对儿童和青少年有重大影响。与 Kniest 发育不良相关的视网膜脱离是最严重的眼部并发症，其有效诊断和治疗极具挑战性。基因检测已成为诊断遗传性疾病的宝贵工具。
一名 23 岁男性因左眼锯齿缘离断性视网膜脱离就诊于我院眼科门诊。高通量外显子测序明确了 Kniest 发育不良的诊断，该疾病由 COL2A1 基因突变引起。患者随后接受了经睫状体平坦部玻璃体切除术联合硅油注入以复位视网膜。该手术干预成功复位了视网膜，使患眼视力恢复至 20/25。
视网膜脱离是 Kniest 发育不良最严重的眼部并发症。为防止永久性失明，早期通过基因检测和定期眼科检查进行诊断至关重要。基因筛查的进步改善了 Kniest 发育不良患者视网膜脱离风险的管理。
