A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.

@article{LithVerhoeven2003APA,
  title={A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.},
  author={Janneke J C van Lith-Verhoeven and Bellinda van den Helm and August F. Deutman and Arthur A. B. Bergen and Frans P. M. Cremers and Carel B. Hoyng and Paulus T. V. M. de Jong},
  journal={Archives of ophthalmology},
  year={2003},
  volume={121 10},
  pages={1452-7}
}
OBJECTIVE To describe the clinical and genetic findings in a family with a peculiar autosomal dominant macular dystrophy with peripheral deposits. METHODS All family members underwent an ophthalmic examination, and their genomic DNA was screened for mutations in the human retinal degeneration slow (peripherin/RDS) and rhodopsin genes. In selected cases… CONTINUE READING