A novel RPGR mutation masquerading as Stargardt disease

Br J Ophthalmol. 2014 May;98(5):709-11. doi: 10.1136/bjophthalmol-2013-304822. Epub 2014 Jan 31.
No abstract available

Keywords: Genetics; Retina; Treatment other.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Eye Proteins / genetics*
  • Family Health
  • Female
  • Humans
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Male
  • Pedigree
  • Retinal Dystrophies / diagnosis*
  • Retinal Dystrophies / genetics*
  • Stargardt Disease

Substances

  • Eye Proteins
  • RPGR protein, human