May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Peripapillary Atrophy in Stargardt Disease
J. C. Hwang; J. Zernant; R. Allikmets; G. Barile; S. Chang; R. T. Smith
Author Affiliations & Notes
  • J. C. Hwang
    Ophthalmology, Columbia University, New York, New York
  • J. Zernant
    Ophthalmology, Columbia University, New York, New York
  • R. Allikmets
    Ophthalmology, Columbia University, New York, New York
  • G. Barile
    Ophthalmology, Columbia University, New York, New York
  • S. Chang
    Ophthalmology, Columbia University, New York, New York
  • R. T. Smith
    Ophthalmology, Columbia University, New York, New York
  • Footnotes
    Commercial Relationships  J.C. Hwang, None; J. Zernant, None; R. Allikmets, None; G. Barile, None; S. Chang, None; R.T. Smith, None.
  • Footnotes
    Support  The New York Community Trust (RTS), Foundation Fighting Blindness (RA), and unrestricted funds from Research to Prevent Blindness
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2156. doi:
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      J. C. Hwang, J. Zernant, R. Allikmets, G. Barile, S. Chang, R. T. Smith; Peripapillary Atrophy in Stargardt Disease. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2156.

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Abstract

Purpose: : To demonstrate that Stargardt disease (STGD) can present with peripapillary atrophy.

Methods: : Patients with ABCA4 mutations P1380L and/or IVS40+5G>A were identified retrospectively from an STGD database from June 1999 to November 2005 at Columbia University’s Harkness Eye Institute. Four eyes of four patients were identified and the medical records were reviewed. Genotyping was performed by the ABCR400 microarray followed by direct sequencing to confirm identified variants.

Results: : Case 1 demonstrated peripapillary and central atrophy with heterozygous ABCA4 mutations P1380L and IVS40+5G>A. Case 2 demonstrated atrophic fleck lesions involving the peripapillary region and central atrophy with homozygous ABCA4 mutations P1380L and P1380L. The remaining cases shared one common STGD mutation with Case 1 and 2 (P1380L or IVS40+5G>A) and demonstrated classic STGD findings of central atrophy and varying presence of peripheral flecks without peripapillary lesions.

Conclusions: : STGD can present with peripapillary atrophy. Peripapillary atrophy may arise from specific combinations of STGD ABCA4 mutations rather than single mutations.

Keywords: retina • genetics 
© 2008, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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