A case of Kniest dysplasia with retinal detachment and the mutation analysis.

Abstract

To report a case of Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation. Interventional case report. DNA was isolated from peripheral lymphocytes, and mutational analysis was carried out using polymerase chain reaction and direct sequencing. A 14-year-old Japanese boy was diagnosed with Kniest dysplasia, and ophthalmic examination revealed a retinal detachment in the right eye. He was successfully treated by vitrectomy and silicon oil injection, and his visual acuity improved from 0.01 to 0.22. DNA analysis of COL2A1 revealed a single base-pair substitution at position +5 of intron 20. Vitrectomy and silicon oil injection were effective in reattaching the retinal detachment in a Kniest dysplasia patient. The genetic alteration found in this patient suggested that this prevented the normal splicing of COL2A1, resulting in an abnormal type II collagen product.