May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Novel Retinal Findings in Patients With Alport Syndrome
Author Affiliations & Notes
  • N. G. Lee
    Ophthalmology, Doheny Eye Institute, Los Angeles, California
  • J. M. Stewart
    Ophthalmology, University of California, San Francisco, San Francisco, California
  • J. Song
    Ophthalmology, Doheny Eye Institute, Los Angeles, California
    Ophthalmology, Children's Hospital of Los Angeles, Los Angeles, California
  • D. Eliott
    Ophthalmology, Doheny Eye Institute, Los Angeles, California
  • A. A. Fawzi
    Ophthalmology, Doheny Eye Institute, Los Angeles, California
  • Footnotes
    Commercial Relationships  N.G. Lee, None; J.M. Stewart, None; J. Song, None; D. Eliott, None; A.A. Fawzi, None.
  • Footnotes
    Support  NIH Grant EY03040
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2127. doi:https://doi.org/
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    • Get Citation

      N. G. Lee, J. M. Stewart, J. Song, D. Eliott, A. A. Fawzi; Novel Retinal Findings in Patients With Alport Syndrome. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2127. doi: https://doi.org/.

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

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Abstract
 
Purpose:
 

Alport syndrome is a hereditary disorder of basement membranecollagen that is characterized by hemorrhagic nephritis, sensorineuraldeafness, and variable ocular abnormalities. Retinal findingsin Alport syndrome have been reported in patients with advancedrenal disease. In this study we describe new retinal findingsin 3 adult patients with Alport syndrome, and review of findingsin an additional 4 patients.

 
Methods:
 

Adult patients with Alport syndrome were retrospectively identifiedfrom the authors’ academic practices, in accordance withthe Institutional Review Board in each respective institution.

 
Results:
 

Three adult patients with unusual retinal abnormalities in thesetting of Alport syndrome and advanced renal disease were identified.There were 3 male patients, 1 Asian and 2 Caucasian patients,ages ranging from 19 to 54. All three patients had visual acuitiesof 20/50 or better. One patient had characteristic fine maculardots in both eyes, but additionally had peripheral radial perivascularlattice. The second patient had a bull's eye maculopathy bilaterally(fig 1). The third patient presented with metamorphopsia andwas noted to have bilateral vitelliform lesions (fig1) withperipheral flecks (fig 2). Additional 4 patients with classicretinal finding are presented ( fig 2).

 
Conclusions:
 

We report three novel retinal findings in adult patients withAlport syndrome, namely vitelliform lesions, bull's eye maculopathyand peripheral perivascular radial lattice degeneration, andreview classic findings in 7 patients of Alport Syndrome  

 

 
Keywords: retina • clinical (human) or epidemiologic studies: natural history • macula/fovea 
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