Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

@article{ApfelstedtSylla1995ExtensiveIA,
  title={Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.},
  author={Eckart Apfelstedt-Sylla and Marc Theischen and Klaus Ruether and Heike Wedemann and Andreas Gal and Eberhart Zrenner},
  journal={The British journal of ophthalmology},
  year={1995},
  volume={79 1},
  pages={28-34}
}
Clinical phenotypes of patients with mutations in the human RDS/peripherin gene are described. A 67-year-old woman, who carried a 1 base pair deletion in codon 307, presented with typical late onset autosomal dominant retinitis pigmentosa (RP). In another autosomal dominant pedigree, a nonsense mutation at codon 46 caused 'inverse' retinitis pigmentosa-like fundus changes associated with progressive cone-rod degeneration in a 58-year-old man, whereas his 40-year-old son presented with yellow… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 20 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 23 references

Extensive genetic heterogeneity in autosomal dominant retinitis pigmentosa

  • GJ Farrar, SA Jordan, R Kumar-Singh, CF Inglehearn, A Gal, C Greggory
  • Retinal degeneration
  • 1993

Novel mutations in the peripherin ( rds ) and rhodopsin genes associated with autosomal dominant retinitis pigmentosa ( ADRP )

  • EM Stone, SK Vandenburgh, AE Kimura, BL Lam, GA Fishman, Heckenlively
  • Invest Ophthalmol Vis Sci
  • 1993

Similar Papers

Loading similar papers…