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Ophthalmic manifestations of Danon disease

F Ryan Prall1, Arlene Drack, Matthew Taylor

  • 1Department of Ophthalmology, University of Colorado, Aurora, Colorado, USA.

Ophthalmology
|June 6, 2006
PubMed

Insights

Danon disease, an X-linked condition, causes characteristic retinopathy in affected females and males. Ophthalmic findings may help identify carriers of this genetic cardiomyopathy.

Area of Science:

  • Ophthalmology
  • Genetics
  • Cardiology

Background:

  • Danon disease is an X-linked genetic disorder.
  • It is characterized by progressive cardiomyopathy.
  • Ophthalmic manifestations are not well-described.

Purpose of the Study:

  • To describe the specific ophthalmic findings in patients diagnosed with Danon disease.
  • To investigate the extracardiac manifestations of Danon disease, particularly in females.

Main Methods:

  • Retrospective case series design.
  • Analysis of genetically confirmed Danon disease patients.
  • Review of comprehensive eye examinations, including electroretinogram, visual fields, and fluorescein angiography.

Main Results:

  • Peripheral pigmentary retinopathy observed in 4 affected females.
  • Lens changes, myopia, and abnormal electroretinograms noted in affected females.
  • Near-complete retinal pigment epithelium depigmentation seen in affected males.

Conclusions:

  • This study presents the first description of a characteristic retinopathy in Danon disease.
  • The findings represent the initial report of extracardiac manifestations in affected females.
  • Ophthalmic screening may aid in identifying asymptomatic carriers of Danon disease.
Abstract

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