Ophthalmic manifestations of Danon disease

Ophthalmology. 2006 Jun;113(6):1010-3. doi: 10.1016/j.ophtha.2006.02.030.

Abstract

Purpose: To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females.

Design: Retrospective case series.

Participants: Patients with genetically proven Danon disease.

Methods: Retrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography.

Results: Five females (4 affected) and 2 affected males were examined. The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and visual fields were also found. The males demonstrated a near-complete loss of pigment in the retinal pigment epithelium.

Conclusion: We report the first description of a characteristic retinopathy in patients with Danon disease and the first extracardiac manifestations in affected females. Retinopathy potentially could be used to identify asymptomatic carriers.

MeSH terms

  • Cataract / diagnosis
  • Cataract / etiology*
  • Cataract / genetics
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Frameshift Mutation
  • Glycogen Storage Disease Type IIb / complications*
  • Glycogen Storage Disease Type IIb / diagnosis
  • Glycogen Storage Disease Type IIb / genetics
  • Humans
  • Lysosomal-Associated Membrane Protein 2
  • Lysosome-Associated Membrane Glycoproteins / genetics
  • Male
  • Myopia / diagnosis
  • Myopia / etiology*
  • Myopia / genetics
  • Pigment Epithelium of Eye / pathology
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / etiology*
  • Retinitis Pigmentosa / genetics
  • Retrospective Studies
  • Visual Fields

Substances

  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2
  • Lysosome-Associated Membrane Glycoproteins