• Xinlei Zhu, Xiaoli Xing, Dongfang Li, and Bin Yu.
• Qingdao Eye Hospital of Shandong First Medical University, Qingdao, China.
• Medicine (Baltimore). 2023 Nov 24; 102 (47): e36090e36090.

IntroductionCongenital 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.Case PresentationA 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.ConclusionRetinal 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.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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