Abstract
A 23-year-old male patient visited our Eye Institute for “retinal detachment with dialysis of the ora serrata in left eye”. Through high-throughput exon sequencing, he was correctly diagnosed with Kniest dysplasia caused by the COL2A1 gene mutation. The retina was successfully reattached, and the vision recovered to 20/25 after pars plana vitrectomy and silicone oil injection. Retinal detachment in Kniest dysplasia is the most serious ocular complication. In order to prevent blindness, early diagnosis and regular eye examination are necessary. If a retinal detachment is found, pars plana vitrectomy to reattach the retina as soon as possible is an effective treatment.
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