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A case of Kniest dysplasia with retinal detachment and the mutation analysis
Toshiyuki Yokoyama1, Satoru Nakatani, Akira Murakami
1Department of Ophthalmology, Juntendo University, School of Medicine, Tokyo, Japan. yokoyama@med.juntendo.ac.jp
Purpose:
To report a case of Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation.
Design:
Interventional case report.
Methods:
DNA was isolated from peripheral lymphocytes, and mutational analysis was carried out using polymerase chain reaction and direct sequencing.
Results:
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.
Conclusion:
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.
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