Graefe's Archive for Clinical and Experimental Ophthalmology

, Volume 242, Issue 11, pp 956–961

Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene

Authors

    • Department of OphthalmologyTohoku University School of Medicine
  • Toshitaka Itabashi
    • Department of OphthalmologyTohoku University School of Medicine
  • Hajime Sato
    • Department of OphthalmologyTohoku University School of Medicine
  • Makoto Tamai
    • Department of OphthalmologyTohoku University School of Medicine
Short Communication

DOI: 10.1007/s00417-004-0923-x

Cite this article as:
Wada, Y., Itabashi, T., Sato, H. et al. Graefe's Arch Clin Exp Ophthalmol (2004) 242: 956. doi:10.1007/s00417-004-0923-x

Abstract

Purpose

To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene.

Methods

Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing.

Results

A Thr494Met mutation in the HPRP3 gene was found in one family and it cosegregated with ADRP in the three affected members. The ophthalmic findings were those of typical retinitis pigmentosa with rapid progression after 40-years-of-age. One patient also had retinoblastoma as a child.

Conclusion

We conclude that the Thr494Met mutation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan.

Copyright information

© Springer-Verlag 2004