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

Am J Ophthalmol. 2003 Dec;136(6):1186-8. doi: 10.1016/s0002-9394(03)00713-x.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

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