Laser clearance of drusen deposit in patients with autosomal dominant drusen (p.Arg345Trp in EFEMP1)

Am J Ophthalmol. 2013 Jan;155(1):190-8. doi: 10.1016/j.ajo.2012.07.003. Epub 2012 Oct 2.

Abstract

Purpose: To assess whether laser treatment to the retinal pigment epithelium anterior to drusen in eyes of patients with EFEMP1-related maculopathy affects visual acuity, deposit volume, and retinal sensitivity.

Design: Prospective, interventional case series.

Methods: In 11 patients with autosomal dominant drusen and confirmed disease-causing EFEMP1 mutation, the worse-seeing eye was treated with Argon green laser (10 to 15 laser spots; 200-μm spot size, 0.1-second duration, 80 to 120 mW). Patients were examined before treatment as well as 1, 3, 6, and 12 months after the procedure. Clinical assessment included visual acuity, fundus-controlled perimetry, spectral-domain optical coherence tomography, and autofluorescence imaging. Custom-made software allowed for coregistration of fundus-controlled perimetry and spectral-domain optical coherence tomography data sets. The main outcome measures were change in visual acuity, retinal sensitivity, and drusen volume.

Results: The untreated eyes lost an average of 0.8 letters, whereas the treated eyes gained an average of 4.9 letters. For fundus-controlled perimetry, locus-by-locus differences in sensitivity were calculated between pretreatment and posttreatment assessments; subsequently, the overall difference in the treated and untreated eye was compared. Five patients showed significant improvement in retinal sensitivity, 5 patients showed no change, and 1 patient showed significant deterioration. An increase in mean drusen thickness was observed in the untreated eyes, but not in the treated eyes (P = .0322). The thickness of the drusen correlated with retinal sensitivity (ρ = -0.49; P < .0001). Safety was demonstrated and no adverse events were observed.

Conclusions: Low-energy laser treatment is safe and may be effective in the treatment of autosomal dominant drusen. Further evaluation with long-term assessment is required to confirm the benefits.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Bruch Membrane / pathology
  • Bruch Membrane / surgery
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / physiopathology
  • Corneal Dystrophies, Hereditary / surgery*
  • Extracellular Matrix Proteins / genetics*
  • Eye Diseases, Hereditary / surgery*
  • Humans
  • Laser Coagulation*
  • Lasers, Gas / therapeutic use*
  • Middle Aged
  • Mutation, Missense*
  • Optic Disk Drusen / congenital
  • Prospective Studies
  • Retina / physiopathology
  • Retinal Drusen / surgery*
  • Retinal Pigment Epithelium / surgery
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests

Substances

  • EFEMP1 protein, human
  • Extracellular Matrix Proteins

Supplementary concepts

  • Basal Laminar Drusen
  • Doyne honeycomb retinal dystrophy