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

Case 22 Teaching Points

  • Findings develop in young patients
  • Normal visual fields, electroretinogram and electrooculogram
  • Vision remains intact
  • May have increased risk of developing age-related macular degeneration with advanced age
  • Thought to be genetic, but often inheritance pattern not established as older generations may have macular degeneration changes which confuse analysis
  • EFEMP1 (epidermal growth factor containing fibrillin-like, extracellular matrix protein-1) mutation identified in some patients

References

Marmor MF. Dominant Drusen. In: Heckenlively JR, Arden GB, eds. Principles and Practice of Clinical Electrophysiology of Vision. St. Louis: Mosby; 1991:664-8.

Stone EM, Lotery AJ, Munier FL, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999;22:199-202.

Last Modified: Friday, 27-Jun-2008 11:18:13 EDT