A cae of Kniet dyplaia with retinal detachment and the mutation analyi

Purpoe To report a cae of Kniet dyplaia with retinal detachment aociated with a novel type II collagen gene (COL2A1) mutation. Deign Interventional cae report. Method DNA wa iolated from peripheral lymphocyte, and mutational analyi wa carried out uing polymerae chain reaction and direct equencing. Reult A 14-year-old Japanee boy wa diagnoed with Kniet dyplaia, and ophthalmic examination revealed a retinal detachment in the right eye. He wa uccefully treated by vitrectomy and ilicon oil injection, and hi viual acuity improved from 0.01 to 0.22. DNA analyi of COL2A1 revealed a ingle bae-pair ubtitution at poition +5 of intron 20. Concluion Vitrectomy and ilicon oil injection were effective in reattaching the retinal detachment in a Kniet dyplaia patient. The genetic alteration found in thi patient uggeted that thi prevented the normal plicing of COL2A1, reulting in an abnormal type II collagen product.