Introduction: 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.
Case presentation: 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.
Conclusion: 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.
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