May 2006
Volume 47, Issue 13
ARVO Annual Meeting Abstract  |   May 2006
Ophthalmic Manifestations of Danon Disease
Author Affiliations & Notes
  • R. Prall
    University of Colorado, Denver, CO
  • A. Drack
    University of Colorado, Denver, CO
  • D. Gregory
    University of Colorado, Denver, CO
  • J. Olson
    University of Colorado, Denver, CO
  • M. Taylor
    University of Colorado, Denver, CO
  • N. Mandava
    University of Colorado, Denver, CO
  • Footnotes
    Commercial Relationships  R. Prall, None; A. Drack, None; D. Gregory, None; J. Olson, None; M. Taylor, None; N. Mandava, None.
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 3290. doi:
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    • Get Citation

      R. Prall, A. Drack, D. Gregory, J. Olson, M. Taylor, N. Mandava; Ophthalmic Manifestations of Danon Disease . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3290.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: : To describe the ophthalmic findings in patients with Danon disease, an X–linked cardiomyopathy.

Methods: : Retrospective study of males and females from a large pedigree with genetically proven Danon disease. Complete eye examination, electroretinogram, color vision, visual fields, and fluorescein angiography were performed.

Results: : Five females (four affected) and two affected males were examined. Affected females demonstrated a unique peripheral pigmentary retinopathy. Lens changes, myopia, abnormal ERG and visual fields were also found. Males demonstrated a near complete loss of pigment in the retinal pigment epithelium.

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

Keywords: retinal degenerations: hereditary • gene/expression • genetics 

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