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

Abstract

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.

• Authors: Toshiyuki Yokoyama, Satoru Nakatani, Akira Murakami
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 136 Issue 6 Pg. 1186-8 (Dec 2003) ISSN: 0002-9394 [Print] United States
• PMID: 14644246 (Publication Type: Case Reports, Journal Article)

Chemical References

• COL2A1 protein, human
• Collagen Type II
• Silicone Oils

Topics

• Adolescent
• Collagen Type II (genetics)
• DNA Mutational Analysis
• Humans
• Male
• Osteochondrodysplasias (genetics)
• Point Mutation
• Polymerase Chain Reaction
• Retinal Detachment (genetics, surgery)
• Silicone Oils (therapeutic use)
• Visual Acuity
• Vitrectomy