1. History
  2. Exam
  3. Photos
  4. Diagnosis
  5. Teaching Points
  6. Comments

Case 25 Teaching Points

  • Many different types of retinitis pigmentosa
  • May present in childhood or adulthood
  • Autosomal dominant, autosomal recessive and x-linked inheritance patterns
  • Can be associated with systemic disorders (Usher, Laurence-Moon-Bardet-Beidel, Kearns-Sayre syndromes)
  • Electroretinogram is gold standard for diagnosis
  • Dark adaptation, Goldmann perimetry, and color testing are useful in assessing visual function
  • Molecular genetic diagnostic testing can be offered to some patients detected with the disease. It may help identify family members and types of retinitis pigmentosa

References

Berson EL. Retinitis pigmentosa: the Friedenwald lecture. Invest Ophthalmol Vis Sci 1993;34:1659-1676

Last Modified: Friday, 27-Jun-2008 11:20:34 EDT